Abstract:
:We describe two novel α2 gene mutations that result in an altered amino acid sequence. In case 1, the α2 stop codon was mutated from TAA > TTA (HBA2: c.428A > T), resulting in an α2 protein chain extension of 31 amino acids. The new hemoglobin (Hb) variant was named Hb Kinshasa for the place of origin of the patient. This patient was also a carrier of Hb S (HBB: c.20A > T), which was expressed at reduced levels, but had an otherwise normal blood count. For cases 2 and 3, an α2 frameshift mutation caused a premature α2 protein chain termination at position 133 (HBA2: c.342-345insCC). The phenotype of this mutation seems to be rather severe as judged by the pronounced microcytosis and hypochromia observed in case 2. In addition, the father of this patient (case 3) also carried a β(0)-thalassemia (β(0)-thal) mutation (HBB: c.118C > T).
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Saller E,Dutly F,Frischknecht Hdoi
10.3109/03630269.2015.1008137subject
Has Abstractpub_date
2015-01-01 00:00:00pages
144-6issue
2eissn
0363-0269issn
1532-432Xjournal_volume
39pub_type
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