Iranian biomedical journal · 2018
A First Report of Hb Alesha [β67(E11)Val>Met, GTG>ATG] in an Iranian Patient.
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Hamid Mohammad, Zargan Nezhad Ebtesam, Galehdari Hamid, Saberi Alihossein, Shariati Gholamreza, Sedaghat Alireza
Аннотация
BACKGROUND: Hemoglobin (Hb) Alesha is a rare and very unstable Hb variant, resulting in disruption of the heme pocket and producing severe hemolysis in heterozygous statues. In this study, we describe the first report of this variant in an Iranian boy originated from south of Iran with severe hemolytic anemia and mild splenomegaly.
METHODS: A six-year-old boy from Khuzestan Province and his parents were studied. Gap-PCR and direct sequencing were performed to detect the a-globin gene deletions and β-globin gene mutations, respectively.
RESULTS: The subject had a sporadic mutation GTG to ATG (Val [valine]>Met [methionine]) at codon 67 in heterozygous form on β-globin gene, which was not detected in his parents.
CONCLUSION: Since both parents proved to be normal, this Hb variant could be considered as a de novo mutation, which is highly useful for prenatal diagnosis.
METHODS: A six-year-old boy from Khuzestan Province and his parents were studied. Gap-PCR and direct sequencing were performed to detect the a-globin gene deletions and β-globin gene mutations, respectively.
RESULTS: The subject had a sporadic mutation GTG to ATG (Val [valine]>Met [methionine]) at codon 67 in heterozygous form on β-globin gene, which was not detected in his parents.
CONCLUSION: Since both parents proved to be normal, this Hb variant could be considered as a de novo mutation, which is highly useful for prenatal diagnosis.