Clinical and Laboratory Parameters in Iraqi Alpha-Thalassemia Pediatric Patients With Different Genetic Profiles,...

Background:α-Thalassemia is a type of inherited hemoglobin disorder with variable severity. Clinically, the severity varies from nearly asymptomatic to severe hemolytic anemia that is life-threatening based on the number of affected genes. Although α-thalassemia has been reported in Iraq, studies concerning phenotype-genotype correlations are lacking. Objectives: Our aim was to identify the types of α-thalassemia mutations and clinical phenotypes of α-thalassemia in relation to the mutation type. Patients and Methods: This analytical cross-sectional study included 84 (55 males and 29 females) patients with α-thalassemia who were ≤ 18 years old registered at the Pediatric Department-Center for Hereditary Blood Diseases, Basrah, Iraq. An analysis of α-globin defects was performed using multiplex polymerase chain reaction (PCR) and direct sequencing. Results: Deletional mutations were reported in 45.24% of patients, nondeletional mutations in 3.57%, and 51.19% had both deletional/nondeletional mutations. The most frequent mutation was α₂ poly A-1 (HbA2:c.^∗94 A > G), which was documented for 35 (41.66%) of all mutations, followed by Mediterranean (MED) (HbA1, 2:c.-31_717del) in 29 (34.52%) patients, while the most common genotype was -^MED/αα in 17 (20.23%) patients. Blood transfusions were required in 28 (80.00%) of those who had nondeletional HbH. Iron overload was reported in 4 (11.43%) patients with nondeletional HbH; this finding did not significantly differ from other types of alpha-thalassemia. Conclusions: The most common reported mutation was α₂ poly A-1 (HbA2:c.^∗94A > G), followed by the MED mutation (HbA1, 2:c.-31_717del), while the most frequent genotype was -^MED/αα. Blood transfusions were more frequent in patients with nondeletional HbH.