Hemoglobin--Delta Locus

Alternative Names

  • HBD
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OMIM Number

142000

NCBI Gene ID

3045

Uniprot ID

P02042

Length

1,646 bases

No. of Exons

3

No. of isoforms

1

Protein Name

Hemoglobin subunit delta

Molecular Mass

16055 Da

Amino Acid Count

147

Genomic Location

chr11:5,232,837-5,234,482

Gene Map Locus
11p15.4

Description

The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA-2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon--Ggamma--Agamma--delta--beta-3'. Mutations in the delta-globin gene are associated with beta-thalassemia. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
Hb Lepore-Boston-Washington NG_000007.3:g.63632_71046delSyriaNC_000011.10:g.5226570_5233984delPathogenicPathogenicFetal Hemoglobin Quantitative Trait Locus 1NG_000007.3:g.63632_71046del15061
NM_000519.4:c.428C>TLebanonNC_000011.10:g.5232980G>AUncertain SignificanceNG_063112.2:g.15678C>T; NM_000519.4:c.428C>T; NP_000510.1:p.Ala143Val35848600
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