A Rare Hb H Disease Due to the – –SEAand 16.6 kb α-Thalassemia-2 Deletions

Autor:	Punnee Butthep, Sumalee Jindadamrongwech, Suravee Sroymora, Suporn Chuncharunee
Rok vydání:	2012
Předmět:	Adult Proband congenital hereditary and neonatal diseases and abnormalities Blood transfusion Thalassemia medicine.medical_treatment Molecular Sequence Data Clinical Biochemistry Severe anemia alpha-Globins alpha-Thalassemia hemic and lymphatic diseases medicine Humans Hb h disease Allele Child Alleles Genetics (clinical) Sequence Deletion Genetics Hemoglobin H Base Sequence business.industry Biochemistry (medical) Anemia Hematology Thailand medicine.disease Pedigree Immunology Female business Multiplex Polymerase Chain Reaction
Zdroj:	Hemoglobin. 36:200-204
ISSN:	1532-432X 0363-0269
DOI:	10.3109/03630269.2012.655355
Popis:	A large deletional α-thalassemia-2 (α-thal-2) allele was identified in a Thai woman with Hb H disease. The proband has α-thal-1 (SEA type) in conjunction with a 16.6 kb deletion affecting the α2-globin allele. The proband had severe anemia and required a blood transfusion during puerperium.
Databáze:	OpenAIRE
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