Codon 8 (-AA) and Codons 22/23/24 (-AAGTTGG) Compound Heterozygous Deletion Mutation in the β-Globin Gene: The First Report in Turkey

Background: Presentation of the first case of beta-thalassemia compound heterozygous with known mutations. Case Report: The patient was 3 years old girl. First symptoms were cough, fatigue, paleness. Hepatosplenomegaly were determined. Hematology parameters were: RBC 1.79 M/uL, Hb4.6 g/dL, Hct 12.3%, MCV 68.7fL, MCH 25.7pg, RDW 31.5%. The level of hemoglobin variants was: HbF 80.5%, HbA 18.2%, HbA2 1.3%, and by molecular analysis codon 8 (-AA) and codons 22/23/24(-AAGTTGG) compound heterozygous mutations were detected. Codon 8 (-AA) and codons 22/23/24(-AAGTTGG) heterozygous mutations were also detected in patient’s mother and father respectively. Conclusion: Clinical manifestations such as late onset of symptoms and laboratory findings of patient with compound heterozygous deletion mutation were worse than homozygous patients whom are having the same mutations. It is important that the detection of carriers before the marriage to prevent the birth of patient children and genetic counseling is a good variety of ways of informing the public on the importance of prenatal diagnosis.