Epidemiology of β‐thalassaemia in Western India: mapping the frequencies and mutations in sub‐regions of Maharashtra and Gujarat

Abstract

Summary Although the average frequency of β‐thalassaemia carriers in India is 3–4% and the prevalent mutations have been studied, no micromapping has been done. This is the first attempt to provide an accurate estimate of the frequencies of β‐thalassaemia and the expected annual births of homozygous children in different districts of Maharashtra and Gujarat in Western India as well as to determine the molecular heterogeneity in different sub‐regions in these states. A total of 18 651 individuals were screened for haemo‐globinopathies and mutations were characterized in 1334 β‐thalassaemia heterozygotes. There was an uneven distribution of the frequencies of β‐thalassaemia, varying from 1·0% to 6·0% and 0% to 9·5% in different districts of Maharasthra and Gujarat. The rate of homozygosity per 1000 births annually was 0·28 in Maharashtra and 0·39 in Gujarat. The three most prevalent β‐thalassaemia mutations in Maharashtra were IVS 1‐5(G→C), Codon 15(G→A) and Codon 30(G→C) (87·9%) while in Gujarat they were IVS 1‐5(G→C), 619 bp deletion and Codon 5(‐CT) (68·5%). These data will help to develop adequate programmes for control and care where they are most needed. They also emphasize the importance of subgroup micromapping for determining the health burden of a common genetic disease.

An investigation of the protective effect of alpha+‐thalassaemia against severe Plasmodium falciparum amongst children in Kumasi, Ghana

“…Both iron deficiency and alpha + -thalassaemia can therefore cause microcytosis (Colah et al, 2010) however, iron deficiency remains the first cause of microcytosis whilst deletional αlpha + -thalassemia, the most frequent haemoglobinopathy throughout the world, represents the second most frequent cause of microcytosis followed by β-thalassemia heterozygous state. Without an increase in Hb A 2 levels, these haematological alterations may be due to α-thalassaemia or iron deficiency (Borges, et al, 2001).…”

“…The thalassaemias are the most common single gene disorders in the world involving inherited disorders of haemoglobin synthesis that result from an alteration in the rate of globin chain production, (Murray, et al, 2003, Modell and Darlison, 2008, Colah et al, 2010. The disorder results in decrease and defective production of haemoglobin, with estimates of gene frequencies ranging from 2.5% to 15% in some areas of the tropics (Modell and Darlisson, 2008).…”

Hematologic Evaluation in Transfused B - Thalassemia Major Patients

“…Mumbai and a few other districts (Bid, Satara, Raigad, Thane, Nashik and Dhule) also had higher frequencies (3.9-5.2%) while the frequencies were much lower in the southern and eastern districts of the state (1.0-2.7%). [3] With this, the thalassemia burden is high and the treatment options till date are packed cell transfusions and hematopoietic stem cell transplantation. Within the Indian scenario, very few patients can avail from the latter.…”

Evaluating the role of indirect bilirubin, urobilinogen and Shine and Lal index as an alternative screening tool for beta thalassemia minor

“…6 Preventive strategies for beta thalassemia minor: There are many preventive strategies including Health education, Mass-screening, Genetic-counselling and Prenatal diagnosis.…”

“…5 Among them, in Gujarat, maximum number of beta thalassemia minor cases are seen in Saurashtra region (46.9%), making it endemic for beta thalassemia disease. 6 Thus, the Saurashtra region is in grave need of active surveillance for detecting maximum number of cases and dispensing appropriate preventive measures and treatment. The cost of ideal treatment of 1 thalassemia major child (regular blood transfusions, iron chelation, blood tests) is nearly Rs.…”