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GENATLAS PHENOTYPE

last update : 24-08-2017

Symbol	BTHAL
Location	11p15.4
Name	beta thalassemia
Other name(s)	hemoglobin--beta locus
Corresponding gene	HBB
Main clinical features	thalassemia major present in the first year of life with severe anemia (hemoglobin level about 5 gm/dl), growth retardation and delayed bone age, death before the age of 35 years, mainly because conventional iron-chelation therapy is too burdensome for full adherence heterozygote presenting microcytic polyglobulie high HbF levels are correlated with reduced morbidity and mortality
Genetic determination	autosomal recessive
Related entries	including methemoglobinemia beta-globin type and erythremia beta-globin type
Function/system disorder	metabolism/porphyrin and heme
Type	disease

Gene product

Name	hemoglobin, beta (HBB)

Remark(s)

common rSNP in the proximal promoter of hemoglobin subunit gamma 1 (HBG1) is a major genetic modifier capable of ameliorating the severity of thalassemia major through the epigenetic-mediated regulation of the delayed fetal-to-adult Hb switch (PMID: 28669403))