Cases with microcytosis not responding adequately to iron supplementation are diagnostic dilemma and have been reported to harbor alpha (α) thalassemia mutations. The aim of this study was to identify and determine the common α globin gene deletions in cases with microcytic anemia.
Methods Fifty four patients selected (22 females and 32 males) had microcytic anemia (MCV < 80 fl, Hemoglobin Hb <12gm/dl) with raised TRBC (> 5M/mm3) but normal HbHPLC. They had either low or normal Transferrin Saturation (TS). Gap-PCR for four common a-gene deletions (-a3.7, -a4.2, - -aSA and --aSEA) was done.
Results Out of the total fifty four microcytic anemia cases nineteen (35.2%) were found to have a gene mutations; Three homozygous and sixteen heterozygous cases of chiefly -a3.7 deletions, a single case of -- a SA were noted ; but no -a4.2 and –SEA mutations were found.
Conclusion In India a gene mutations may be much more than what has been documented and its presence should be considered as a causes of relentless microcytic anemia not responding to iron. It can confound iron deficiency anemia hence its coexistence should be sought even in the face of low iron stores in subjects who respond incompletely to iron supplementation. Since no RBC indices or a discriminant function can identify its presence only molecular studies commonly using Gap PCR for common α thalassemia deletions mutation including – α SA need to be done for their detection.