TITLE:
Codon 8 (-AA) and Codons 22/23/24 (-AAGTTGG) Compound Heterozygous Deletion Mutation in the β-Globin Gene: The First Report in Turkey
AUTHORS:
Cemal Polat, Osman Evliyaoğlu, Nuriye Mete, Esra Türk, Ahmet Yıldırım
KEYWORDS:
Beta-Thalassemia, Compound Heterozygous Deletions, Codon 8 (-AA), Codons 22/23/24 (-AAGTTGG)
JOURNAL NAME:
Open Access Library Journal,
Vol.3 No.4,
April
15,
2016
ABSTRACT: 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.