Kattamis Antonis, Delaporta Polyxeni, Fylaktou Irene, Vrettou Christina, Kyriakopoulou Dimitra, Stamoulakatou Alexandra, Papassotiriou Ioannis, Kanavakis Emmanuel, Traeger-Synodinos Jan
First Department of Pediatrics, Athens University Medical School , Athens , Greece.
Hemoglobin. 2015;39(1):55-7. doi: 10.3109/03630269.2014.981827. Epub 2014 Dec 5.
We report the case of a 5-year-old child with clinical and hematological findings consistent with the diagnosis of α-thalassemia intermedia (α-TI). Molecular analysis disclosed the common 3.7 kb deletion in the α-globin gene cluster in trans to a novel in-frame 6 bp deletion in the HBA2 gene. It removes the sequence CCTGGG (or GCCTGG) that normally encodes for alanine (codon 13) and tryptophan (codon 14). Even though several hemoglobin (Hb) variants with mutations affecting codons 13 or 14 have been described, Hb Souli (HBA2: c.[41-46delCCTGGG]) is, to the best of our knowledge, the first variant to be reported where both amino acid residues, α13Ala and α14Trp, are deleted, leading to unstable and rapidly degraded α-globin chains.
我们报告了一例5岁儿童，其临床和血液学检查结果符合中间型α地中海贫血（α-TI）的诊断。分子分析显示，α珠蛋白基因簇中常见的3.7 kb缺失与HBA2基因中一个新的框内6 bp缺失处于反式状态。它去除了通常编码丙氨酸（密码子13）和色氨酸（密码子14）的序列CCTGGG（或GCCTGG）。尽管已经描述了几种影响密码子13或14的血红蛋白（Hb）变体，但据我们所知，Hb Souli（HBA2: c.[41-46delCCTGGG]）是首个被报道的变体，其中α13Ala和α14Trp这两个氨基酸残基均缺失，导致α珠蛋白链不稳定且迅速降解。
