
A clinical update of compound heterozygosity for hemoglobin
Sep 4, 2024 · Background: Hemoglobin (Hb) Hekinan II (A27; Glu-Asp) is an α-chain variant, and its interaction with the common Southeast Asian (--SEA/) α-thalassemia (α-thal) deletion is rarely reported. This study provides a clinical update of Hb Hekinan II associated with (--SEA/) α-thal.
clinical update of compound heterozygosity for hemoglobin …
Apr 6, 2024 · Hemoglobin (Hb) Hekinan II (A27; Glu-Asp) is an α-chain variant, and its interaction with the common Southeast Asian (--SEA /) α-thalassemia (α-thal) deletion is rarely reported. This study provides a clinical update of Hb Hekinan II associated with (--SEA /) α-thal.
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp) AND not specified
Feb 26, 2019 · The Hb Hekinan II variant (HBA1: c.84G>T; p.Glu28Asp, also known as Glu27Asp when numbered from the mature protein, rs41530750) is described in the literature as a non-pathogenic variant observed in heterozygous individuals without clinical symptoms and with normal hematology (Yao 2013, HbVar database).
Full article: Comprehensive Hematological and molecular ...
Jan 29, 2025 · Hb Hekinan (α 2Hekinan β 2) is caused by a point mutation at codon 27 (GAG→GAT) of the α1- or α2-globin gene, resulting in the substitution of glutamic acid with aspartic acid.
Laboratory diagnosis of a compound heterozygosity for Hb …
We report the haematological and molecular characterization of a previously undescribed condition of compound heterozygosity for haemoglobin (Hb) Hekinan [alpha27 (B8) Glu-Asp] and a deletional alpha-thalassaemia 2 detected in a Thai individual.
Full article: Interactions of electrophoretically silent hemoglobin ...
Jul 24, 2024 · Hemoglobin Hekinan is a genetic variant that affects the structure of the α-globin protein. This variant is caused by a change from G to T in the third nucleotide base at codon 27 of the α-globin gene. This results in the replacement of glutamic acid with aspartic acid at position 8 of the B helix [3].
Complex interaction of Hb Hekinan [alpha27(B8) Glu-Asp] and Hb …
Hemoglobin (Hb) Hekinan (alpha27; Glu-Asp) is a rare alpha-chain variant found mainly in Japanese and Chinese whereas Hb E (beta26; Glu-Lys) is common among Southeast Asians. We report a hitherto undescribed condition in which these two variants co-segregate.
Two Cases of Compound Heterozygosity for Hb Hekinan [α27 (B8)Glu…
Aug 24, 2009 · Two unrelated cases of compound heterozygosity for Hb Hekinan [α27 (B8)Glu→Asp (α1)] and α‐thalassemia have been found in Thailand. Mutations were established at protein level by peptide mapping and at the DNA level by direct sequence analysis.
Complex interaction of Hb Hekinan [α27(B8) Glu ... - Wiley Online …
Apr 15, 2003 · Abstract: Hemoglobin (Hb) Hekinan (α27; Glu–Asp) is a rare α‐chain variant found mainly in Japanese and Chinese whereas Hb E (β26; Glu–Lys) is common among Southeast Asians. We report a hitherto undescribed condition in which these two variants co‐segregate.
A clinical update of compound heterozygosity for ... - ResearchGate
Apr 6, 2024 · Background Hemoglobin (Hb) Hekinan II (A27; Glu-Asp) is an α-chain variant, and its interaction with the common Southeast Asian (--SEA/) α-thalassemia (α-thal) deletion is rarely reported. This...