Search

Thalassemias are common monogenic autosomal recessive hemoglobin disorders. The usually asymptomatic heterozygotes (β-thalassemia traits, βTT) may rarely develop non-transfusion-dependent-thalassemia (NTDT) due to co-inheritance of supernumerary α-globin genes. Literature on phenotypic/genotypic features of these rare combinations is limited.We studied the demographic, clinical, and laboratory data from 47 persons with coinherited βTT+supernumerary α-globin genes. HBB mutations were tested for by ARMS-PCR and/or Sanger sequencing, αααThe 47 cases comprised 0.08% of 61,010 hemoglobinopathy screenings during the study period. Mean age was 31.9±14.7 years (range 5.5 to 83 years), with 57.4% males. Thirty (63.8%) had NTDT-phenotype, 16 (34%) were asymptomatic/minimally symptomatic, and one became transfusion-dependent at the age of 20 years. Anemia/pallor and jaundice were the commonest complaints (76% each); 40% had required blood transfusions. Twenty-one had splenomegaly, 14 had hepatomegaly. Mean hemoglobin was 9.0±1.9 g/dL (range 4.0-13.0). HbA2 was 5.1±0.7% (3.4-6.3%) and HbF% 4.2±3.2% (0.5-18.4%). Forty-four (93.6%) had αααThis largest Indian and globally the second-largest study reports the βTT+ααα