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Variable haematological and clinical presentation of β‐thalassaemia carriers and homozygotes with the P oly A ( T → C ) mutation in the Indian population
Author(s) -
Italia Khushnooma,
Sawant Pratibha,
Surve Reema,
Wadia Marukh,
Nadkarni Anita,
Ghosh Kanjaksha,
Colah Roshan
Publication year - 2012
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2012.01810.x
Subject(s) - mean corpuscular volume , compound heterozygosity , mutation , medicine , heterozygote advantage , population , alpha thalassemia , hemoglobinopathy , gastroenterology , microbiology and biotechnology , immunology , hemolytic anemia , biology , genetics , genotype , gene , hemoglobin , environmental health
Objectives To study the varied clinical and haematological profile of β‐thalassaemia homozygotes, compound heterozygotes and heterozygotes with the P oly A ( T → C ) mutation and its implication in prenatal diagnosis. Materials and methods Forty individuals were included in the study. Peripheral smear examination, complete blood count and haemoglobin analysis were carried out. β‐thalassaemia mutation analysis was carried out by reverse‐dot‐blot hybridization, amplification refractory mutation system and DNA sequencing of the β‐globin gene. Results Five of the six β‐thalassaemia homozygotes with the P oly A ( T → C ) mutation and five individuals who were compound heterozygous for the P oly A ( T → C ) mutation along with another common I ndian β‐thalassaemia mutation showed a severe β‐thalassaemia major phenotype, while one individual presented as a thalassaemia intermedia. Majority of the 28 heterozygous individuals with this mutation showed borderline HbA 2 (mean HbA 2 = 3.7 ± 0.4%) levels as compared to individuals with common β‐thalassaemia mutations (mean HbA 2 = 5.2 ± 1.4%). The Mean Corpuscular Volume (MCV) levels in individuals heterozygous for the P oly A ( T → C ) mutation (mean MCV 70.0 ± 5.2 fl) were significantly higher than in individuals with other common β‐thalassaemia mutations (mean MCV 60.7 ± 7.7 fl) ( P < 0.001). Conclusion It is important to identify these often silent carriers of β‐thalassaemia for prenatal diagnosis as homozygotes have a severe disease.