IthaID: 497

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 27 GAG>GTG [Glu>Val]	HGVS Name:	HBA2:c.83A>T
Hb Name:	Hb Spanish Town	Protein Info:	α2 27(B8) Glu>Val

Context nucleotide sequence:
GCGCACGCTGGCGAGTATGGTGCGG [A/T] GGCCCTGGAGAGGTGAGGCTCCCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAVALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a Black Jamaican family presented as clinically asymptomatic in a heterozygote state. The Hb Spanish Town also reported in compound heterozygosity with the Hb S [IthaID:824] and in association with the -α3.7 deletion [IthaID: 300] in an 18-month old girl presented with hypochromia and microcytosis. Isoelectrofocusing analysis shown the two unstable Hbs (Hb Spanish Town and Hb S).

External Links

HbVar	dbSNP
dbSNP	OMIM
SwissVar

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-chain variant
Allele Phenotype:	N/A
Stability:	Unstable
Oxygen Affinity:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	33858
Size:	1 bp
Located at:	α2
Specific Location:	Exon 1

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Jamaican, Portuguese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Ahern E, Ahern V, Holder W, Palomino E, Serjeant GR, Serjeant BE, Forbes M, Brimhall B, Jones RT, Haemoglobin Spanish Town alpha27 Glu replaced by Val (B8)., Biochim. Biophys. Acta , 427(2), 530-5, 1976 PubMed
Cash FE, Monplaisir N, Goossens M, Liebhaber SA, Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val)., Blood , 74(2), 833-5, 1989 PubMed
Ruiz-Reyes G, [Abnormal hemoglobins and thalassemias in Mexico]., Rev. Invest. Clin. , 50(2), 163-70, 1998 PubMed
Faustino P, Picanço I, Miranda A, Seixas T, Ferrão A, Morais A, Lavinha J, Romão L, Compound heterozygosity for Hb Spanish town [alpha27(B8)Glu-->Val], Hb S [beta6(A3)Glu-->Val] and the -alpha(3.7kb) thalassemia deletion., Hemoglobin , 26(2), 185-9, 2002 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2021-03-04 12:34:03 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2014-03-13 12:43:34	The IthaGenes Curation Team	Reviewed.
3	2021-03-04 12:31:54	The IthaGenes Curation Team	Reviewed. HGVS and protein name corrected. Comment added.
4	2021-03-04 12:33:21	The IthaGenes Curation Team	Reviewed. Selected gene corrected.
5	2021-03-04 12:34:03	The IthaGenes Curation Team	Reviewed.

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