Open Journal of Blood Diseases, 2012, 2, 71-80 Published Online December 2012 (
Incidence of Sickle Cell Anaemia and Thalassaemia in
Central India
Bhaskar P. Urade
Department of Anthropology, University of Pune, Pune, India.
Received June 25th, 2012; revised August 13th, 2012; accepted August 26th, 2012
Haemoglobinopathies are group of diseases characterized by abnormalities both quantitative and qualitative in the syn-
thesis of haemoglobin. Haemoglobinopathies consist of sickle cell anaemia (SCA), thalassaemia (βT) and variant
haemoglobins. In India, they are responsible for the largest number of genetic disorders and hence are of great public
health hazardous. In India major concerned haemoglobinopathic disorders are sickle cell anaemia and β-thalassaemia.
Of the several abnormal haemoglobin molecules, four which are widely prevalent in India include: HbS, HbβT, HbE and
HbD. Examination of 6463 individuals showed high incidences for haemoglobin variants, HbS and HbβT in different
ethnic groups, the frequency being varies from 0% - 20% and 0% - 9% respectively. The frequency of HbS in Brahmins
is 4.17%, in Kalar 5.41%, in Rajput 2.04%, in Muslims 3.73% in Maratha 2.08% in Bania 9.09% while in Teli it is
3.65%. Among the Scheduled castes and Nomadic tribal groups HbS ranges from 1% - 12%; in backward caste catego-
ries it varies from 3% - 16%; while in Scheduled tribes it ranges from 0% - 20%. The high magnitude of sickle cell trait
has been noticed in the Pardhan (20.31%) followed by the Marar (16.10%), the Dhiwar (11.90%), the Gond (11.89%),
the Mahar (11.81%) and the Bania (9.90%). A considerable high frequency (9.27%) of β-thalassaemia has been ob-
served among the Sindhi population. Sporadic occurrence of HbβT and HbD among other communities suggested the
gradual spread of the genes into the region. The present findings in 11 communities with the thalassaemia syndrome
suggest that the β-thalassaemia is accompanied by raised level of HbA2. Unusual greater mean RBC and WBC suggest
the high concentration of hypochromic microcytosis in anaemia. The mean MCV and MCH in HbβT and HbD are much
lower than the normal ranges compared to HbS. The mean MCHC is much lower in HbβT, HbDD and HbS than the
normal range. The cumulative gene frequency of haemoglobinopathies in India is 4.2%. With a population of over 1
billion and a birth rate of 28 per 1000, there are over 42 million carriers and over 12,000 infants are born each year with
a major and clinical significant haemoglobinopathy. Out of these, clinically significant sickle cell anaemia and β-tha-
lassaemic disorders account for almost equal numbers.
Keywords: Haemoglobinopathies; Sickle Cell Anaemia; Thalassaemia; Central India; Prevention; Management
1. Introduction
The haemoglobinopathies-sickle cell anaemia, thalassae-
mia and other abnormal haemoglobins contribute to ge-
netic diseases and imbalance health profile of a nation in
general and Vidarbha region in particular. The haemo-
globinopathies are a group of inherited conditions that
result in the synthesis of either a globins chain with an
abnormal structure or reduced synthesis of a globins
chain with normal structure leading to chain imbalance.
The inherited disorders of haemoglobin are prevalent
largely in tropical countries including India. The inher-
ited genetic diseases of haemoglobin are controlled by a
single gene that transmits from parents to offspring from
one generation to another affecting millions of people
throughout the world. Sickle cell anaemia (SCA) and
thalassaemia (βT) are such genetic disorders caused by
point mutation, which are of major concern from the
point of view of public health policy. Haemoglobin, a
component of red blood cells, carries oxygen from the
lungs to different body organs and tissues and brings
carbon dioxide back to the lungs.
For the first time the presence of Sickle cell gene (HbS)
in India was detected in Irula boy in Nilgiri hills in 1952
[1]. This deleterious gene was later on found in many
parts of the country. Linus Pualing and his co-workers in
1950 obtained abnormal haemoglobin by electrophoresis
in which the proteins with the same molecular weight but
different charges migrate at different rates. J. Ingram in
1957 obtained the molecular change in the haemoglobin
molecule of sickle cell anaemia.
Pattern of Inheritance
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Incidence of Sickle Cell Anaemia and Thalassaemia in Central India
Carrier Affected Carrier
trait trait traitanaemia anaemia
At present about 5 percents of the world’s population
are carriers of a potentially pathological haemoglobin
gene (heterozygote condition). Every year about 300,000
infants worldwide are born with thalassaemia syndrome
(30 percents) and sickle cell anaemia (70 percents).
Globally, the percentage of carriers of thalassaemia is
greater than that of carriers of SCA, but because of the
high frequency of the sickle cell gene in certain regions
the number of affected birth is higher than with thalas-
saemia. While the general incidence of β-thalassaemia
trait and sickle cell haemoglobinopathy varies between 3
and 17 percents and 1 and 44 percents respectively, be-
cause of high consanguinity and caste and area endog-
amy some communities show high incidence making the
disease a major public and genetic health problem in In-
dia [2,3]. Earlier reports show a very high frequency of
sickle cell trait (> 20 percents) among the Mahar, Kurmi,
Panka, Otkar, Pardhan, Pawara, Bhil etc. [4-20]. β-tha-
lassaemia is a major monogenic single gene disorder re-
sulting from a reduced or absent synthesis of β-globin ch-
ain. This mutant gene is common in communities like,
Sindhi, Parsee and Lohana and different ethnic groups of
Punjabi, Bengali, Gujarati etc. [21-24]. There are five
haplotypes which are responsible for SCA namely, Sene-
gal, Bantu, Benin, Asian and Camroon across the world.
2. Material and Method
A systematic mass screening camps were carried out in
various schools and at the community level during which
6463 individuals comprising 3468 males and 2995 fe-
males from four districts of Vidarbha region were screen-
ed for haemoglobin S and haemoglobin βT using solu-
tions of qualitative solubility test and NESTROFT re-
spectively. Figure 1(a) shows the area from where the
data have been collected. Necessary consents as prereq-
uisite were obtained from individuals before subjecting
them to the tests. 20 μl blood samples were drawn from
finger prick for each test and mixed thoroughly with so-
lutions. Result for haemoglobin S variant was noted
down after 3 minutes while for haemoglobin β-variant it
was taken after about 20 - 25 minutes. The sample with
turbidity and opaque was considered positive for sickle
cell and thalassaemia [25]. 2 ml intravenous blood sam-
ple was drawn in B.D. vacutainer and brought to the
DNA lab at CRC, Nagpur for further analysis. Haemato-
logical indices were measured using calibrated ERMA
particle counter.
Laboratory investigations were carried out following
standard procedure as described by Dacie and Lewis [25].
All the samples were subjected to haemoglobin electro-
phoresis using cellulose acetate membrane in alkaline
TEB buffer at pH 8.9 for pattern confirmation. The
known samples (control) of HbS and HbβT along with
present samples were run for electrophoresis. A2 fraction
of adult haemoglobin was estimated by elution method of
413 nm using spectrophotometer as well as HPCL. Fig-
ure 1(b) shows the mobility of pattern for different hae-
moglobin variants. A value of more than 3.5 percents for
A2 was considered as the cut off point for determination
of β-thalassaemia trait. Foetal haemoglobin was esti-
mated by the method of Betke et al. [26].
Only male samples were subjected to for G6PD defi-
ciency status by florescent spottest [27].
3. Results
Total samples of 6463 individuals have been screened for
sickle cell anaemia and thalassaemia with the qualitative
solubility test and NESTROFT respectively. Out of
which 374 (5.78 percents) and 145 (2.24 percents) indi-
viduals were shown to be positive for HbS for HbβT re-
Table 1 portrays the frequency for HbS and HbβT var-
ies from 0.16 - 33.33 percents and 0.72 - 9.27 percents
respectively. A very high frequency of HbS is recorded
among the Pardeshi (25 percents) followed by the Pard-
han (20.31 percents). A moderate frequency has been
seen among the Dhiwar and the Bania (9.09 per-
(a) (b)
Figure 1. (a) Map of Maharashtra showing study area; (b)
Position of Hb variants.
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Incidence of Sickle Cell Anaemia and Thalassaemia in Central India
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Table 1. Profile of Haemoglobinopathies in Vidarbha region of Maharashtra.
HbAA HbAS HbSS β-thal HbAD HbDD HbF
Community No.
M F No. % No. % No. % No. % No. No.
Mahar 1651 751 699 195 11.81 8 0.48 - - - - - 4
Kunbi 185 77 99 9 4.86 - - - - - - - -
Teli 329 177 140 12 3.65 - - - - - - - -
Halba 139 86 49 2 1.44 - - 1 0.72 1 0.72 - -
Gond 230 103 99 27 11.74 - - 1 0.43 - - - -
Gowari 55 29 22 4 7.27 - - - - - - - -
Marar/Mali 118 40 59 19 16.10 - - - - - - - -
Bawane kunbi 23 11 11 1 4.35 - - - - - - - -
Maratha kunbi 48 17 30 1 2.08 - - - - - - - -
Dange kunbi 18 8 9 1 5.56 - - - - - - - -
Kalar 111 56 49 6 5.41 - - - - - - - -
Brahmin 144 89 49 6 4.17 - - - - - - - -
Tirale kunbi 134 75 52 6 4.48 - - 1 0.75 - - - -
Khaire kunbi 246 94 129 23 9.35 - - - - - - - -
Zade kunbi 13 7 5 1 7.69 - - - - - - - -
Chambhar 54 28 25 1 1.85 - - - - - - - -
Dhangar 43 25 17 1 2.33 - - 1 2.33 - - - 1
Dhiwar 55 24 26 5 9.09 - - - - - - - -
Pardhan 64 22 28 13 20.31 1 1.56 - - - - - 1
Kohali 37 16 20 1 2.70 - - - - - - - -
Bania 11
8 2 1 9.09 - - - - - - - -
Banjara 17 10 4 1 5.88 1 5.88 1 5.88 - - - -
Muslim 161 117 38 6 3.73 - - - - - - - -
Mehetar 62 29 32 1 1.61 - - - - - - - -
Madgi 40 21 15 4 10.0 - - - - - - - -
Dhobi 43 24 15 2 4.65 - - 2 4.65 - - - -
Rajput 49 28 18 1 2.04 - - 1 2.04 - - 1 -
Powar 113 57 52 2 1.77 - - 4 3.54 - - - 2
Sutar 30 14 16 - - - - - - - - - -
Lohar 59 26 32 1 1.69 - - - - - - - -
Dhanoje kunbi 2 - 2 - - - - - - - - - -
Lewa kunbi 4 1 3 - - - - - - - - - -
Lonare kunbi 3 2 1 - - - - - - - - - -
Katia 2 - 1 1 50.0 - - - - - - - -
Navi 17 12 5 - - - - - - - - - -
Incidence of Sickle Cell Anaemia and Thalassaemia in Central India
Sikh 40 25 11 - - - - 1 2.5 3 7.5 - -
Kumbhar 16 7 9 - - - - - - - - - -
Beldar 21 13 8 - - - - - - - - - -
Bengali 12 9 3 - - - - - - - - - -
Marwadi 12 10 2 - - - - - - - - - -
Sindhi 1241 549 562 2 0.16 - - 115 9.27 9 0.73 4 -
Shimpi 12 8 3 - 8.33 - - - - - - - -
Telugu 21 15 1 4.76 - - - - - - - - -
Matang 3 1 2 - - - - - - - - - -
Pardeshi 4 1 2 1 25.0 - - - - - - - -
Christan 28 22 6 - - - - - - - - - -
Bais 6 2 2 2 33.33 - - - - - - - -
Yadav 39 31 8 - - - - - - - - - -
Kahar 8 6 2 - - - - - - - - - -
Gujarati 13 6 7 - - - - - - - - - -
Walmiki 4 1 3 - - - - - - - - - -
Bhoyar 2 2 - - - - - - - - - - -
Burud 3 3 1 - - - - - - - - - -
Khatik 7 4 3 - - - - - - - - - -
Satnami 3 3 - - - - - - - - - - -
Nepali 3
3 - - - - - - - - - - -
Others 482 297 185 - - - - - - - - - -
Total 6463 3192 2755 362 10 128 - 13 - 5 8
cents each), the Gond (11.74 percents each), the Mahar
(11.81 percents), the Shimpi (8.33 percents), the Zade
kunbi(7.69 percents), the Madgi (7.5 percents) and the
Gowari (7.27 percents). An appreciable frequency of
HbS has seen among the Banjara (5.88 percents), the
Khaire kunbi (9.35 percents), the Dange kunbi (5.56
percents), the Kalar (5.41 percents), the Kunbi (4.86
percents), the Telugu (4.76 percents), the Tirale kunbi
(4.48 percents), the Bawane kunbi (4.35 percents), the
Brahmin (4.17 percents), the Muslim (3.73 percents) and
the Teli (3.65 percents). However, in some of the
sub-group and castes no abnormality of any Hb variant is
seen. Since these cases represent the local population
structure, they reflect the magnitude and vulnerability of
the haemoglobinopathy in the population and the region
(Figure 2). Most of the cases of haemoglobinopathy, in
general are detected when they come forward casually
find their status.
From the spectrum of haemoglobinopathies it has been
observed that the sickle cell trait is the most common
haemoglobinopathy (5.6 percents) followed by β-thalassae-
mia carrier (2.01 percents), sickle cell disease (0.15 per-
cents) HbD trait (0.19 percents), HbD homozygous
(0.08 percents) and HbSFβT (0.12 percents) were en-
The present study shows a moderate frequency of
β-thalassaemia (9.27 percents) among the Sindhi. Spo-
radic occurrence of β-thalassaemia has also been found
among other Hindu caste population in Vidarbha region
(Figure 3). However, a very high frequency (8 - 17 per-
cents) of the gene HbβT has been reported among the
Sindhi population of Nagpur [13,23].
The mean of all the haemotological parameters
showed significantly lower levels and increased level of
fetal haemoglobin (HbF) and A2. The percent of A2
ranges from 3.52 - 16.52. The mean WBC in SCT shows
higher than the mean values for β-thalassaemia minor,
HbAD and HbDD. The mean RBC of SCT shows lesser
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Incidence of Sickle Cell Anaemia and Thalassaemia in Central India 75
Figure 2. Community-w ise frequency distr i bution of SCT in Vidarbha.
Figure 3. Community-wise fr eque nc y distribution of β-thalassaemia in Vidarbha region.
value than the mean for β-thalassaemia minor and HbDD.
The mean values of Hb, MCV, MCH and MCHC among
SCT of both male and female shows higher frequencies
than their β-thalassaemia minor counterparts (Figures 4
& 5). However, the mean of all the above-mentioned
haemotological parameters has been found much below
than their normal ranges. The red cell count is relatively
higher in relation to the haemoglobin and MCH in
β-thalassaemia minor.
Evidently the HbS gene is prevalent in general castes
like Brahman, Rajput, Kalar, Bania and Sindhi. Balgir
[28] reported a very high frequency of β-thalassaemia in
Khandayat, Brahmin and the Karan and HbS is no excep-
tion in these populations. Sinha et al. [29] reported the
presence of HbS and HbβT among the Bramin and Mus-
lim. The present findings are in conformity with the
above cited findings. Bhasin et al. [30] argued that the
findings of HbS and HbβT reported earlier elsewhere in
India where the haemoglobinopathy is stated to be con-
fined only in Scheduled tribes and Scheduled castes and
that the general castes are not affected. This hypothetical
assumptions lead to a major controversy in the field of
haemoglobinopathies as the genetic disorders are of pub-
lic health concerned rather than any ethnic specific.
It is apparent that the HbS gene has spread all over the
region irrespective of caste or community. β-thalassae-
mia once it was stated to be confined to the Sindhi and
Sikh, who migrated from Sindh region of Pakistan, has
been detected in other communities. It is interesting to
know that in all 11 communities among whom the β-
thalassaemia has been found, were interviewed and said
that no inter-caste marriages were taken place at least for
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Incidence of Sickle Cell Anaemia and Thalassaemia in Central India
Figure 4. Distribution of mean of cell morphology.
HbDD (5)
HbAD (13)
HbAS (M=115)
HbAS (F=78)
Thal (M=65)
Thal (F=65)
Figure 5. Distribution of mean of cell morphology.
3 - 4 generations except 2 - 3 cases of the Sindhi. The
presence of HbDPunjab gene among the Sindhi, Punjabi,
Halba and the Rajput and absence in other communities
is a clear indication that there is no spread of HbDPunjab in
the region.
Ironically, the majority of the cases (50.26 percents) of
SCT have been found under childhood period (up to 15
yrs) followed by a reproductive age group (16 - 45 yrs;
46.63 percents). While the individuals of HbAD (68.75
percents) and β-thalassaemia carrier (53.12 percents)
shows higher frequency of reproductive age. Only a few
cases have been detected for HbS and HbβT variants after
reproductive age.
G6PD deficiency has been 10.94 percents among the
β-thalassaemia (Sindhi population) and shows a signifi-
cant association with thalassaemia whereas it was com-
pletely absent in sickle cell anaemia.
4. Discussion
The sickle cell anaemia and thalassaemia are the most
severe form of genetic disorders and hence are of great
importance to be dealt with from public health point of
view in India. These two forms of haemoglobin variants
prevalent at higher magnitude pose a great threat to
population imbalance. Therefore, these inherited abnor-
malities of haemoglobin synthesis are the most serious
public health problem in central India in particular and in
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Incidence of Sickle Cell Anaemia and Thalassaemia in Central India 77
India in general reflecting the genetic heterogeneity of
the population.
The earlier researchers have shown a complete ab-
sence of gene HbS in Muslims [31-34]. On the contrary
to this, the present findings show the presence of gene
HbS among the Muslim (3.73 percents) and is in agree-
ment with earlier findings [28,29]. A very high frequency
among the Pardhan was reported [9,11,12,35]. The pre-
sent findings are in agreement with the findings [4]
where they had reported a very high frequency of HbS
among the Mahar and the Kunbi. Sickle cell is prevalent
in Maharashtra, Madya Pradesh, Orissa, Andhra Pradesh,
Gujarat, Tamil Nadu, Karnataka, Kerala and Uttar
Pradesh [36]. The HbS gene is prevalent among the gen-
eral caste including Brahmins and is in conformity with
the findings reported [28,29].
The presence of the deleterious gene HbS in some
groups and the complete absence in some groups indi-
cates that the independent mutation might have taken
place during early life of human being. It is evident from
the literature that the several ethnic groups with varied
genetic elements have been assimilated into the main-
stream, resulting in population diversity with the passage
of time [37]. This situation leads to the parallel diver-
gence of sub groups of the same community that the one
group with the deleterious gene emerged while another
group of the same ethnic elements evolved unaffected
during the course of time. Initially the mutation might
have originated at first and gradually reached a high fre-
quency in these populations. Sometime migration may
also one of the reasons to carry mutant allele into other
population, which ultimately reached a high frequency.
The subdivision of the population of India by geographic,
linguistic, religious caste and other barriers has resulted
in the existence and perpetuation of thousands of distinct
highly inbred communities [38]. This remarkable genetic
heterogeneity is a distinctive feature of the Indian popu-
lation accounts for uneven and variable distribution of
the haemoglobinopathies [39]. Diffusion of HbS muta-
tion from the Middle East region to India by Arab or
Muslim expansion was proposed by Livingstone [40]. In
most cases, HbS mutation in the Middle East and in India
shares a common haplotype but the high prevalence of
HbS among the tribal and scheduled caste populations of
India and its relatively less among the Muslims does not
convince the suggestion.
A considerable high level of HbF in few cases of
sickle cell patient and β-thalassaemia carrier provides a
protective mechanism in ameliorating the quality of life.
A few incidences of splenomegaly have been observed in
sickle cell patient, HbSβT and β-thalassaemia major. The
persistence splenomegaly was greater in HbSFβT patients
probably related to the raised HbF level found in Indian.
Higgs et al. [41] reported a significantly greater persis-
tence of splenomegaly in Jamaican. The effect of
α-thalassaemia is not large enough to be noticeable in
Indian populations [42] but this test was not done in the
present study.
The spread of Hbβ gene in the region is due to gene
flow or migration of people from north-west pre-inde-
pendent India ie, Sindh region of Pakistan. It is evident
from the present findings that the β haemoglobin is in
abundance in endemic form in the present population
from where they had spread to other part of the central
It is interesting to note that rapid proliferations of ab-
normal haemoglobins S and HbβT in central India is due
to castes and area endogamy and lack of medical facili-
ties. These many aspects are the root causes for increase-
ing complexions of SCD and β-thalassaemia in central
The HbSβ-thalassaemia patients had more severe dis-
ease with lower Hb level, MCV and MCH than their
counterparts having HbSS. The red cell count was rela-
tively higher among HbSβ patients in relation of the
haemoglobin and MCH in carriers of the thalassaemia
may be due to production of extra microcytes. In the
present study the detection of HbAD (5 percents) in the
Sikh is in agreement with the earlier reports [21,24,43].
5. Conclusions
Haemoglobinopathies are the most common monogenic
disorder affecting the millions of population worldwide.
The geographical distribution of HbS and HbβT variants
in India is not uniform as the prevalence varies from 2 -
22 percent and 1 - 15 percent respectively in different
region of the country. In central India the incidence of
β-thalassaemia has been mainly attributed to its high
prevalence in the migrant population of Sindhi origin.
Screening of healthy population is required to determine
the carrier rates and gene frequencies in this region. Be-
cause of the complications associated with haemoglobi-
nopathies and frequent health crisis these genetic disor-
ders are becoming a growing health care problem in all
regions of the developing country. The urgent attention
and need of the hour is to launch community based mass
screening programme at large level to target the high risk
population so that implementation and monitoring can be
done to reduce the prevalence of haemoglobinopathies in
the country.
The misbelieve/wrong notions that has been deeply
rooted in the society is that, the presence of sickle cell
gene among the lower castes is due to food habits as the
people used to eat the flesh of dead animals during ear-
lier days. Historically, the man used to eat animal flesh
and tubers for his survival when he evolved until he
learnt to produce food. Each and everybody were solely
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Incidence of Sickle Cell Anaemia and Thalassaemia in Central India
dependent upon the nature, sharing a common platform
and consumed same thing more or less equally whatever
was available during that time. So it is worth mentioning
here that every small group of population has something
or the other genetic disorder as there is no association
between caste or creed and disease. Therefore it is inap-
propriate to say that SCA is confined to the lower caste
and tribal groups. Earlier researchers were mostly con-
fined to tribal groups and hence they did not have any
other option but to write about scheduled tribe. From the
present study it may be stated that the presence of HbS
among higher communities pave the way of transmitting
this gene in to lower castes during ancient period as the
higher caste people used to sexually exploit socially and
economically backward populations. To suppress this fact,
there was planned and a thoughtful view of earlier re-
searchers [10,44] who stigmatised the Mahar from cen-
tral India with the high rate of sickling so that the label of
high SCA could remains with them. With the advent of
modern technology it has been cleared now that the ear-
lier food habit has nothing to do with the occurrence of
sickle cell or thalassaemia in man. Occurrence of delete-
rious gene HbS and HbβT among the people of different
communities is due to alteration at the molecular level in
the genetic material (DNA) what is called mutation.
Sickle cell anaemia and thalassaemia are the best exam-
ples of point mutation as these disorders are caused by a
single gene which is transmitted through parents to off-
spring from generation to generations. And this mutation
has taken place independently in different communities
in different areas across the world during the course of
human evolution.
In present study the presence of HbS gene in almost all
castes and communities demonstrate that sickle cell
anaemia is no longer confined to specific ethnic groups;
instead it is widely distributed in all tribal, scheduled
caste, backward and higher caste populations’ native to
this region. Similarly, sporadic occurrence of HbβT, HbD
in the present study suggests the spread of HbβT well
beyond the Sindh and Punjab regions to central India.
The high magnitude of HbS and βT appears to contribute
significantly to the load of haemoglobinopathies in this
region which ultimately going to be a great challenge
imbalancing the genetic constitution and threat to these
populations in this region. Since many of the sicklers live
up to 40 - 42 years with active reproductive life and car-
riers lead a normal life like healthy ones, they enhance
the chance of propagation of deleterious genes of sickle
cell anaemia, thalassaemia and other abnormal haemo-
globin genes for generations together. It is not unrealistic
to state that the presence of HbS, βT and HbD in hitherto
unreported communities from this region is due to of lack
of research, under-diagnosis due to suspicion, prevailing
bias and prejudices, stigma, complexity, defaming atti-
tude, lack of awareness and absence of diagnostic facili-
ties at prenatal stage.
In Maharashtra, the incidence of HbβT has been mainly
attributed to its high prevalence in the migrant population
of Sindhi. The sporadic occurrence of HbβT among other
communities is the indication of either gradual spread of
β-gene due to hybridization or due to independent muta-
tion during the course of evolution which needs further
indepth research at the molecular level to decipher the
The most effective approach to tackle the menace of
haemoglobinopathies, it is essential to offering genetic
counselling, proper health education, sensitization to the
individual concern, prenatal diagnosis and selective ter-
mination of pregnancy of the affected foetus are the re-
medial measures for prevention and management of
haemoglobinopathies in India to see better tomorrow and
healthy nation.
5.1. Prevention
1) Identification of groups at high risk through mass
screening at the community level.
2) Carrier couples detected are informed of the genetic
risk and advice for prenatal diagnosis.
3) Screening and counselling can lead to a significant
reduction in affected births.
4) Strategy for prevention-provision of prenatal diag-
nosis for risk couple and screening of People of premari-
tal/reproductive age.
5) Genetic counselling is essential to protect the auton-
omy of the individual. It should be sensitive to the cul-
tural, religious and ethical views of the individual.
5.2. Management
1) Public education, genetics, detection of genetic risk
the community, family history and premarital genetic
2) Nationwide programme for prevention and treat-
3) A barrier to implementing effective haemoglobi-
nopathy services is lack of awareness about genetic dis-
eases. Improve understanding and awareness at commu-
nity level.
4) Medical education and training courses should in-
clude modules on genetic counselling, the application of
genetics to public health and the associated ethical, legal
and social issues.
5) Due to lack of sufficient data on the epidemiology
of haemoglobinopathies, research and surveillance are
important for planning and evaluation of intervention.
6) Heamoglobinopathies are becoming challenging task
to introduce genetic approaches to control other chronic
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Incidence of Sickle Cell Anaemia and Thalassaemia in Central India 79
childhood diseases. Before formulating are effective pro-
gramme, health authorities, health professionals and ex-
pert should perceive haemoglobin disorder as a public
health problem.
6. Acknowledgements
Author expresses his deep concern and gratitude to the
Director, Anthropological Survey of India, and Govt. of
India for sanctioning the project—haemoglobinopathies
in central India, Prof. C.S. Singhrol, Prof. Moyna Chak-
ravarty, and Prof. Anjali Kurane for offering their valu-
able suggestions, people who donated blood and col-
leagues who helped in analyzing blood samples in DNA
Lab of ASI, Nagpur.
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