Prevalence of β-thalassaemia in subcastes of Indian Sindhis: Results from a two-phase survey

Jawahirani, Anil; Mamtani, Manju; Das, Kishor; Rughwani, Vinky; Kulkarni, Hemant

doi:10.1016/j.puhe.2006.10.017

Cited by 26 publications

(16 citation statements)

References 8 publications

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“…Sporadic 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 percents) of the gene Hbβ T has been reported among the Sindhi population of Nagpur [13,23].…”

Section: Resultsmentioning

confidence: 99%

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Incidence of Sickle Cell Anaemia and Thalassaemia in Central India

Urade¹

2012

OJBD

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Haemoglobinopathies are group of diseases characterized by abnormalities both quantitative and qualitative in the synthesis of haemoglobin. Haemoglobinopathies consist of sickle cell anaemia (SCA), thalassaemia (β T ) 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, Hbβ T , HbE and HbD. Examination of 6463 individuals showed high incidences for haemoglobin variants, HbS and Hbβ T 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 categories 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 observed among the Sindhi population. Sporadic occurrence of Hbβ T 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 HbA 2 . Unusual greater mean RBC and WBC suggest the high concentration of hypochromic microcytosis in anaemia. The mean MCV and MCH in Hbβ T and HbD are much lower than the normal ranges compared to HbS. The mean MCHC is much lower in Hbβ T , 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-thalassaemic disorders account for almost equal numbers.

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Section: Resultsmentioning

confidence: 99%

“…This mutant gene is common in communities like, Sindhi, Parsee and Lohana and different ethnic groups of Punjabi, Bengali, Gujarati etc. [21][22][23][24]. There are five haplotypes which are responsible for SCA namely, Senegal, Bantu, Benin, Asian and Camroon across the world.…”

Section: Introductionmentioning

confidence: 99%

Incidence of Sickle Cell Anaemia and Thalassaemia in Central India

Urade¹

2012

OJBD

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“…Several studies on hemoglobinopathies and thalassemia have been conducted in various states and population of India by using chromatography based methods [16][17][18][19]. Occurance of thalassemia in India is up to 3%, but in some communities like Sindhis, Punjabis, Lohanas, Kutchi Bhanushalis, Jains and Bohris have a higher prevalence 4-17% [3,8,18,[20][21][22][23][24]. These chromatography based methods can be used to detect hemoglobinopathies in the blood samples but not for detecting prenatal cases.…”

Section: Discussionmentioning

confidence: 99%

Whole Gene Sequencing Based Screening Approach to Detect β-Thalassemia Mutations

Chaudhary¹,

Dhawan²,

Sojitra³

et al. 2017

Biol Med (Aligarh)

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About 200 causative mutations are characterized in the β-globin gene. Beta thalassemia diagnosis is very complicated due to the genetic diversity of HBB gene across different geographical regions of the world. In the present study, we have analyzed 138 clinical specimens among them 66 were from 21 unrelated families (trio samples which had DNA from father, mother and chorionic villus sample/amniotic fluid sample) and 72 individual specimens using newly developed sequencing and PCR based assay. We observed 11 different HBB gene mutations in 138 samples, which were also cited by literature as the most prevalent mutations in Indian subcontinent population. The most common mutation observed in our study was HBB.C.92+5 G>C (GC+CC genotype was observed to be 44.93%). Few interesting case studies like co-inheritance of sickle cell anemia and β-thalassemia traits, compound heterozygosity of beta thalassemia major mutation in the case of twin pregnancy were also focused briefly. Commercially available molecular diagnostic kits of HBB gene can detect and identify targeted mutations but will not detect novel and non-targeted mutations of beta thalassemia in parental blood and fetal samples. Hence, a screening technique involving complete sequencing of HBB gene (β-globin gene) is required along with gap PCR approach to provide complete diagnosis of beta thalassemia disease.

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“…Genetic studies involving the Sindhis from the Sindh province of Pakistan, have mainly focused on HLA polymorphism (Mohyuddin et al, 2003), Y-chromosomal DNA variation (Qamar et al, 2002), etc., whereas genetic studies involving the Indian Sindhis, have been few and far between. As there is a high prevalence of ␤-thalassaemia among the Sindhi community, some of these studies on Indian Sindhis have concentrated on ␤-thalassaemias (Jawahirani et al, 2007;Rakholia and Chaturvedi, 2013).…”

Section: Discussionmentioning

confidence: 99%