Abstract:
:We describe a novel compound heterozygous genotype which consists of two point mutations named Hb Adana (HBA1: c.179G>A) and codon 127 (HBA2: c.382A>T) in a Kurdish family with two girls affected with severe α-thalassemia (α-thal). Both patients (the proband and her sister) had a history of splenectomy during childhood. Although the proband had no blood transfusion history, her affected sister has had two blood transfusions so far. In conclusion, diagnosing and reporting new genotypes on the α-globin genes will improve our knowledge about complicated genotype-phenotype correlations in α-thal disorder.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Azimi A,Tahmasebi S,Moradi K,Nejati P,Alibakhshi Rdoi
10.1080/03630269.2020.1766485subject
Has Abstractpub_date
2020-03-01 00:00:00pages
139-142issue
2eissn
0363-0269issn
1532-432Xjournal_volume
44pub_type
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