Haemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin chains of thehemoglobinmolecule. Hemoglobinopathies are inherited single-gene disorders; in most cases, they are inherited as autosomal co-dominant traits. Common hemoglobinopathies include sickle-cell disease. It is estimated that 7% of world's population (420 million) are carriers, with 60% of total and 70% pathological being in Africa.
Haemoglobin Functions :Transport of oxygen from the lungs to the tissues. This is due to the peculiar cooperation of the globin chains that allows the molecule to take in more oxygen where there is increased oxygen and to release oxygen in low concentration of oxygen.Transport of carbondioxide: from the tissue to the lungs.the end product of tissue metabolism is acidic which increases the hydrogen ion in solution. the hydrogen ion combines with bicarbonates to produce.
Symptoms and signs: Blood tests (Findings).
Statistics: β-thalassemia is encountered in polymorphic frequencies in almost all Arab countries with carrier rates ranging from 1 to 11 % as detailed in Table 1. Heterozygous carriers of β-thalassaemia are usually symptom free. Their haematology is mostly characterised by a mild anaemia, reduced MCV and MCH values (60–70 fL and 19–23 pg, respectively), a raised level of HbA2 (3.5–7.0 %), and normal or slightly elevated HbF. Homozygosity or compound heterozygosity to β-thalassaemia defects will classically lead to the transfusion-dependent β-thalassemia major, which is a health problem in almost all Arab countries.