The rare Hb Showa-Yakushiji [beta110(G12)Leu-->Pro, CTG-->CCG] in combination with an alpha gene triplication found in a Dutch patient during her first pregnancy examination.
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| Abstract |
We report a semi dominant beta-thalassemia (thal) phenotype caused by the rare Hb Showa-Yakushiji [beta110(G12)Leu-->Pro, CTG-->CCG] mutation in combination with an alpha gene triplication. This combination of two rare mutations was observed during hemoglobinopathy carrier diagnostics in a 26-year-old Dutch female at 9 weeks gestation, at the first pregnancy examination in the midwives practice. The partner was promptly examined and no abnormalities were found. The beta-thal trait was diagnosed by a standard high performance liquid chromatography (HPLC) procedure showing a normal separation but an elevated Hb A(2) level of 5.9% in the presence of pronounced hypochromic microcytic parameters and mild chronic hemolysis. Direct sequencing of the beta-globin genes was subsequently performed revealing a CTG-->CCG transition at codon 110. This rare mutation was previously described as two independent events in a few Japanese and Indian individuals. The mutation induces a Leu-->Pro substitution and the gene product is highly unstable. Gap-polymerase chain reaction (gap-PCR) revealed a heterozygosity for the alpha gene triplication as well. The excess of alpha-globin chains contributed only marginally to the hematological abnormalities of the patient and did not aggravate the phenotype to an intermediate level.
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| Authors | Piero C Giordano, Akosua Addo-Daaku, Margaretha J Sander, Irene van Rooijen-Nijdam, Peter van Delft, Cornelis L Harteveld, Peter J M J Kok |
| Journal | Hemoglobin (Hemoglobin) Vol. 31 Issue 2 Pg. 167-71 ( 2007) ISSN: 0363-0269 [Print] England |
| PMID | 17486498 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't) |
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