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GENATLAS PHENOTYPE

last update : 12/12/2008

Symbol	HBA1
Location	16p13.3
Name	hydrops fetalis (HB-A@ deletion)
Corresponding gene	HB-A@
related resource	A Syllabus of Human Hemoglobin Variants & A Syllabus of Thalassaemia Mutations
Main clinical features	in southeast Asia, alpha-thalassemia the most common cause of fetal hydrops because alpha-globin chains normally are produced throughout gestation, fetuses without alpha-globin genes would suffer from severe anemia, and thus hypoxia, heart failure, and hydrops fetalis
Genetic determination	autosomal recessive
Function/system disorder	metabolism/porphyrin and heme
Type	disease

Gene product

Name	hemoglobin, alpha cluster (HB-A@)

Remark(s)