Hb Bibba or alpha 2 136(H19)Leu-->Pro beta 2 in a Caucasian family from Alabama.

doi:10.3109/03630269509036935

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Article

Hb Bibba or alpha 2 136(H19)Leu-->Pro beta 2 in a Caucasian family from Alabama.

Hemoglobin - 1 Jan 2000

Prchal J T, Adler B, Wilson J B, Baysal E, Qin W B, Molchanova T P, Pobedimskaya D D, Kazanetz E G, Huisman T H

Abstract excerpt

Several members of a large Caucasian family who presented with a congenital Heinz body hemolytic anemia were found to be carriers of the unstable Hb Bibba or alpha 2 136(H19)Leu-->Pro beta 2. Identification by protein analysis was hampered by the instability of the variant which complicated its isolation from shipped blood samples. Moreover, the detection of the CTG-->CCG mutation at codon 136 of the alpha 2 gene...

Topics

Alabama
Amino Acid Sequence
Anemia, Hemolytic, Congenital
Base Sequence
DNA Mutational Analysis
Electrophoresis, Polyacrylamide Gel
Female
Genetic Variation
Globins
Heinz Bodies
Hemoglobins, Abnormal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heterozygote

Humans

Male

Molecular Sequence Data

Pedigree

Point Mutation

White People

Source

Open in PubMed

Identifiers

PMID: 7558871
DOI: 10.3109/03630269509036935

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7558871-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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