Clinical and haematological characteristics of haemoglobin H disease

Aim: to study the clinical and haematological characteristics of haemoglobin h disease study design: descriptive cross sectional study. place & duration: the study was conducted at the department of haematology,armed forces institute of pathology (afip),rawalpindi,over a period of five years. methods: by using non probability consecutive sampling,we assessed the clinical features and hematological values of the patients visiting afip for hemoglobin studies. complete blood counts were done on sysmex kx 21 automated haematology analyzer. haemoglobin h inclusions were visualized by supra vital staining with new methylene blue. hemoglobin electrophoresis of the sample was carried out on cellulose acetate membrane in tris edta borate buffer at 8.9ph. results: against 557 patients diagnosed as thalassaemia major/ intermedia,haemoglobin h disease was diagnosed in 10 patients during the study period. out of the ten patients 4(40%) were males while 6(60%) were females. the patients ranged in age from 7 to 32 years. 60% were punjabi and 40% were pathan. clinical presentation of the patients was symptoms of anaemia in 100% and jaundice in 10%. history of transfusion was present in 90% of the patients. on examination pallor was present in 100%,liver was palpable in 20% and spleen in 80% cases. mean haematological parameters were trbc 4.5(±1.6),hb 8.8(±2.2),mcv 71.9(±11.8),mch 20.4(±2.9),mchc 25.7(±8.7). mean reticulocyte count was 15.8%(±9.4). haemoglobin h inclusions were seen in 100% cases. band of haemoglobin h was seen on cellulose acetate membrane in all of the patients. conclusion: haemoglobin h disease is an uncommon disorder and out of 557 thalassaemia major/intermedia patients diagnosed during this period 10(1.7%) patients were diagnosed as having haemoglobin h disease.