Occurrence of Hereditary Hemochromatosis Among β-Thalassemia Intermediate and β -Thalassemia Minor Subjects In Gaza Strip - Palestine

Abstract

Hereditary hemochromatosis (HH) is a panethnic autosomal recessive disease that is more frequently observed in males. If untreated HH can cause heart disease, diabetes milletus, liver cirrhosis and impotence among men. The Mediterranean anemia “Thalassemia” is one of the chronic inherited diseases characttreized by iron oveload and prevails in the Mediterranean basin countries. The percentage of thalassemia minors in Palestine ranges between 3.0 % to 4.5 %. This study aims to figure out the occurrence of HH among β–thalassemia intermediate and β–thalassemia minor. The study population consisted of (25) thalassemics intermediate who do not depend on regular blood transfusion, (30) thalassemia minors and (30) normal persons as the control group. Blood samples collected from the study subjects were tested for serum ferritin, serum iron and total iron binding capacity (TIBC). DNAs extracted from the samples were genotyped for the two HFE gene common mutations C282Y and H63D by PCR-RFLP technique. The results of the study showed that all the control subjects were normal in terms of serum ferritin, serum iron and TIBC and their HFE genotype. Biochemical tests of thalassemia minor group showd that 2 (7%) of them have iron overload, while none of them showed HH due to C282Y mutation. Regarding the H63D mutation, PCR-RFLP results showed that 7 (23%) of them are hetreozygous, and that 2 (7%) of them are homozygous. Concering the thalassemia intermediate group, biochemical tests showed that 17 (68%) of them have iron overload, but C282Y mutation was not detected in any of them. The H63D mutation test however, showed that 5 (20%) of them are hetreozygous, and that 3 (12%) of them are homozygous for this mutation. This study recommends offering the PCR-RFLP technique to all thalasemics, thalassemia minors, and iron overload patients at the early stages of their diagnosis in order to detect or rule out HH due to C282Y and H63D mutations in the HFE gene. This can contribute to prescrbing Deferasirox (Exjad® )or Deferoxamine (Desferal®) to those pateints in early stages of the disease and thus help reducing the future complications of iron overload, besides finding other methods of treatment. It is worth to mention that this study is the first of its kind in Gaza Strip that investigated the genetic basis of HH and its relation to thalassemia disease.