Control of Thalassemia in India

Colah, Roshan; Gorakshakar, Ajit

doi:10.4081/thal.2014.1955

Cited by 11 publications

(3 citation statements)

References 34 publications

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“…The people of Mediterranean origin, Asians and Arab-Americans are mainly suffering from thalassemia (Mazharul Islam, 2017). It is noticed that about 16% people from Cyprus, 3-14% from Thailand, 3-8% population from India, Pakistan, Bangladesh, and China are victims of thalassemia (Kalokairinou, 2007, Riewpaiboon et al, 2010, Asif and Hassan, 2014, Ahmed et al, 2022, Colah and Gorakshakar, 2014, Colah et al, 2017, Hossain et al, 2017, Zhang et al, 2018, Yao et al, 2013. However, the prevalence of thalassemia in Pakistan is not known.…”

Section: Introductionmentioning

confidence: 99%

CULTURAL CONSANGUINITY AS CAUSE OF Β-Thalassemia PREVALENCE IN POPULATION

Aslamkhan

Qadeer

Akhtar

et al. 2023

Preprint

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Background: Some 200 million people worldwide have haemoglobinopathies of some sort. Pakistan, where 80% consanguinity prevails because of marriages within caste groups that are anthropologically same. The study aims to reveal the impact of consanguinity on thalassemia in various castes in Punjab, Pakistan. Subjects and Methods: 262 β-thalassemic patient families were studied. Patients were registered in various Thalassemia Blood Transfusion Hospitals/Centers, in the metropolitan city of Lahore, Punjab, Pakistan. Patients and parents were interviewed using structured questionnaire regarding information about name, age, sex, ethnicity (caste), educational status, consanguinity of parents, number of progenies, health status of children, pregnancy wastage and family history. Results: The 262 (couples) parents of β-thalassemic patients revealed 96% consanguineous marriages with 72% first cousins, 10% distant blood relatives and 14% Bradari. Inter-castes marriages were 4% only. These families produced 1646 children, 582 males and 464 females. Of these, 303 boys and 293 girls are healthy, while 279 boys and 171 girls are thalassemic. In 26 castes, the prevalence of thalassemia varied from 21% to 3%. Rajput tribe on top followed by Arain. Conclusion: Thalassemia is widely spread in Pakistani population. Its prevalence varied in caste groups due to endogamy, a major impact on the prevalence of thalassemia.

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Section: Introductionmentioning

confidence: 99%

CULTURAL CONSANGUINITY AS CAUSE OF Β-Thalassemia PREVALENCE IN POPULATION

Aslamkhan

Qadeer

Akhtar

et al. 2023

Preprint

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“…The hemoglobinopathies are the commonest group of single gene disorders in the country. Both the beta and the alpha thalassemias as well as abnormal hemoglobins are prevalent in variable frequencies in different communities and complex disorders due to their interactions are also seen . Accurate diagnosis is important for management of patients as well as identification of carriers for counseling and control of these disorders.…”

Section: Introductionmentioning

confidence: 99%

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center

Nadkarni

Gorakshakar

Sawant

et al. 2018

Int J Lab Hematology

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Introduction The hemoglobinopathies pose a significant health burden in India. Apart from the β thalassemias and sickle cell disorders, α thalassemias and structural hemoglobin variants are also common. Here we have reviewed the phenotypic and molecular diversity of hemoglobinopathies encountered at a referral center in western India over a period of 15 years. Materials and Methods Screening for hemoglobinopathies was done using HPLC and cellulose acetate electrophoresis. Molecular characterization was done using Covalent Reverse Dot Blot Hybridization (CRDB), Amplification Refractory Mutation System (ARMS), GAP PCR and direct DNA sequencing. Results The study includes 31 075 individuals who were referred for diagnosis of hemoglobinopathies and prenatal diagnosis. Of these 14 423 individuals showed various hemoglobin abnormalities. Beta genotyping in 5615 individuals showed the presence of 49 β thalassemia mutations. 143 β thalassemia heterozygotes had normal or borderline HbA2 levels. We identified three δ gene mutations (HbA2 Pellendri, HbA2 St.George, HbA2 Saurashtra) in β thalassemia heterozygotes leading to normal HbA2 levels. The commonest defects among the raised Hb F determinants were Gγ(Αγδβ)0 Indian inversion and the HPFH‐3 Indian deletion. A total of 312 individuals showed the presence of α thalassemia, of which 12.0% had a single α gene deletion (−α/αα). HbH disease was identified in 29 cases with 10 different genotypes. Alpha globin gene triplication was seen in 2.1% of β thalassemia heterozygotes with a thalassemia intermedia phenotype. Seven unusual α chain variants and eight uncommon β chain variants were identified. Conclusion The repertoire of molecular defects seen in the different globin genes will be valuable for management and control of these disorders both in India as well as in other countries where there is a huge influx of migrant populations from India.

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“…Beta‐thalassaemia is the most common single gene disorder in India characterized by reduced or absent β ‐globin chain synthesis . The burden of haemoglobinopathies in India is huge with nearly 10 000–12 000 infants being born every year with a severe disorder.…”

Section: Introductionmentioning

confidence: 99%