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:

Protein sequence:

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).

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


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

  1. 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
  2. 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
  3. Ruiz-Reyes G, [Abnormal hemoglobins and thalassemias in Mexico]., Rev. Invest. Clin. , 50(2), 163-70, 1998 PubMed
  4. 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)

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