Peripheral blood and hemoglobin electrophoresis pattern in beta thalassemia major patients receiving repeated blood transfusion.

One hundred and fifteen beta thalassemia major outpatients attending the Thalassemia Center Department of Child Health, Medical School University of Indonesia Dr. Cipto Mangunkusumo General Hospital for routine blood transfusion and hematology examination, participated in this study. There was a negative correlation between the size of the spleen and the peripheral blood parameters. All peripheral blood parameters tend to decrease with the enlargement of the spleen, and the condition is reversed after splenectomy. We observed that hypersplenism starts when the spleen is as big as S (V – VI). The hemoglobin electrophoresis pattern from beta thalassemia major patients receiving repeated blood transfusion did not show a dense HbF fraction, 90 patients showed a normal hemoglobin electrophoresis pattern. A hemoglobin analysis of both parents could be useful to confirm the diagnosis of beta thalassemia major for patients receiving repeated blood transfusion. In order to get a definite diagnosis, a genetic analysis by bio molecular technique is needed.

Diabetes mellitus in ß-thalassemia major patients.

β-thalassemia major is a disease caused by β polypeptide chain synthesis disorder which is inherited as an autosomal recessive from both parents which is marked by little or no β globin chain synthesis. Medication for β thalassemia major patients is by repeated blood transfusions, which causes hemochromatosis. Hemochromatosis can occur in various organs including the pancreas. The aim of the study was to assess the alteration of plasma glucose concentration and the hemochromatosis prevalence. Fasting plasma glucose concentration and serum ferritin examination were measured in 115 β thalassemia major patients with ages between 10-23 years who were out-patients in the Thalassemia Centre, Department of Child Health, Medical School, University of Indonesia / Dr. Cipto Mangunkusumo General Hospital, Jakarta. The plasma glucose concentration examination was conducted by the GDH enzymatic method, with American Diabetes Association (ADA) criteria in the evaluation, while the serum ferritin examination was conducted with the microparticle enzyme immuno assay (MEIA) method. All patients had hemochromatosis, 14.8% of the patients had impaired fasting glucose level and 2.6% of the patients showed indications of diabetes mellitus. β thalassemia major patients who receive frequent transfusions will develop hemochromatosis that will in turn impair the pancreatic function.