Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) Disease

Autor:	Suporn Chuncharunee, Punnee Butthep, Suravee Sroymora, Sumalee Jindadamrongwech
Rok vydání:	2012
Předmět:	Male Proband Hemoglobin H Chemistry Hemoglobins Abnormal DNA Mutational Analysis Biochemistry (medical) Clinical Biochemistry Hematology High-performance liquid chromatography Molecular biology Abnormal hemoglobin alpha-Thalassemia Mutation Mutation (genetic algorithm) Humans Hb h disease Allele Child Genetics (clinical) Sequence Deletion
Zdroj:	Hemoglobin. 36:293-298
ISSN:	1532-432X 0363-0269
Popis:	A rare nondeletional α-thalassemia-2 (α-thal-2) allele was identified in a Thai boy with Hb H (β4) disease. The proband has α-thal-1 (- -(SEA) type) together with a non productive Hb Queens Park (HBA1:c.98TA) [α32(B13)Met→Lys] α1-globin variant. No abnormal hemoglobin (Hb) fraction was detected by high performance liquid chromatography (HPLC). The clinical effect of this mutation in the proband was comparable to that of deletional α-thal-2 present in Hb H disease.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8aa35de886c4575a0117464d8aa9aec https://doi.org/10.3109/03630269.2012.658939 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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