Frequency of Haemoglobinopathies in Premarital Screening in Nineveh Province

Abstract

Background: Haemoglobinopathy is a large heterogeneous group of genetic abnormalities of haemoglobin. It is one of the most common inherited diseases worldwide. Aim of this study: This study aimed to find the frequency of different types of Haemoglobinopathies in premarital couples in Nineveh province. Subjects and Methods: In this cross-sectional study, the subjects were couples who go to the primary health care centers in Nineveh governorate for routine premarital investigations and the data were collected from the main premarital screening centers in Nineveh governorate. Results: In this study, 1127 cases were included. 613 (54.4 %) were male, their ages range between (13-80 years), and 514 (45.6 %) were female, their ages range between (10-52 years). 47 cases were diagnosed as βeta-thalassaemia carriers with an overall frequency of 4.2 %. Ten cases had haemoglobin S (HbS) by the High Performance Liquid Chromatography (HPLC) (sickle cell trait in 9 cases and sickle β-thalassaemia in only one case); the overall frequency of sickle cell carrier state is 0.89 %. Eight cases with an overall frequency of 0.71 % were diagnosed as having other types of Haemoglobinopathies (haemoglobin D, haemoglobin E, haemoglobin H). Eighty one cases were diagnosed as having iron deficiency with an overall frequency of 7.2 %. By using the Hardy –Weinberg equation; we found the expected number of children born with homozygous βeta-thalassaemia would be (0.3/1000 from those born) and homozygous sickle cell disease would be (0.01/1000 from those born). Conclusions: β-thalassaemia trait represented the most frequent Haemoglobinopathy in the region, Iron deficiency was significantly higher in females than in males, HPLC is a good technique for routine use and the expected number of children born with homozygous β-thalassaemia, sickle cell and others (HbD, HbE, HbH) were (0.3/1000, 0.01/1000 and 0.0085/1000 from those born) respectively.