Hb J sicilia: P 65 (E9) Lys→Asn, a beta homologue of Hb zambia

Ricco, G; Pich, P. G.; Mazza, U; Rossi, Giacinto; Ajmar, Franco; Arese, Paolo; Gallo, Eugenio

doi:10.1016/0014-5793(74)80050-5

Cited by 29 publications

(2 citation statements)

References 12 publications

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“…In case of the β‐globin gene, the counterpart of Hb A 2 ‐Yunnan is the Hb J Sicilia [beta 65 (E9) Lys > Asn, HBB:c.198G > T]. A previous study also had shown that those heterozygous for Hb J Sicilia had no clinically significant problems (Ricco et al, ). The molecular structure of Hb A is similar to that of Hb A 2 with a slight subunit modification (Sen et al, ).…”

Section: Discussionmentioning

confidence: 99%

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

Zhang

Yang

et al. 2019

Molec Gen & Gen Med

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Background Deletional hereditary persistence of fetal hemoglobin (HPFH)/δβ‐thalassemia and δ‐thalassemia are rare inherited disorders which may complicate the diagnosis of β‐thalassemia. The aim of this study was to reveal the frequency of these two disorders in Southwestern China. Methods A total of 33,596 subjects were enrolled for deletional HPFH/δβ‐thalassemia, and positive individuals with high fetal hemoglobin (Hb F) level were diagnosed by multiplex ligation‐dependent probe amplification (MLPA). A total of 17,834 subjects were analyzed for mutations in the δ‐globin gene. Positive samples with low Hb A2 levels were confirmed by δ‐globin gene sequencing. Furthermore, the pathogenicity and construction of a selected δ‐globin mutation were analyzed. Results A total of 92 suspected cases with Hb F ≥5.0% were further characterized by MLPA. Eight different deletional HPFH/δβ‐thalassemia were observed at a frequency of 0.024%. In addition, 195 cases suspected to have a δ‐globin gene mutation (Hb A2 ≤2.0%) were characterized by molecular analysis. δ‐Globin gene mutation was found at a frequency of 0.49% in Yunnan. The pathogenicity and construction for a selected δ‐globin mutation was predicted. Conclusion Screening of these two disorders was analyzed in Southwestern China, which could define the molecular basis of these conditions in this population.

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Section: Discussionmentioning

confidence: 99%

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

Zhang

Yang

et al. 2019

Molec Gen & Gen Med

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“…Hb J-Sicilia (β65 lys→Asn) was first described in1974 in a young Sicilian woman. This Hb variant doesn't show any difference in function, which can be considered as a homologue of Hb Zambia (β60 lys→Asn [17]. Hb J-Baltimore and Hb J-Sicilia were the first to be reported in Chinese population, both of which have compound homozygous mutation in HbA 2 gene 5'-UTR and a synonymous mutation (c.9T>C) in HBB gene.…”

Section: Discussionmentioning

confidence: 99%

"Hemoglobinopathy: Hematologic and Molecular Characteristics in Shanghai, Eastern China"

Wang

2023

BJSTR

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Hemoglobinopathies are common inherited diseases in southern China. The aim of the present study is to analyze the hematologic and molecular features of hemoglobinopathies in Shanghai, in order to provide a reference data for screening hemoglobinopathies. A total of 1029 samples were studied using High Performance Liquid Chromatography (HPLC) on the Bio-Rad Variant II HPLC system. GAP-PCR and reverse dot blot (RDB) were used to detect globin gene mutation or deletion. DNA sequencings for Alpha Globin gene (HBA1/A2) and Beta Globin gene (HBB) were simultaneously performed. We found that among 1029 samples, beta-thalassemia was the predominant type of hemoglobinopathy (39.16%). Six (0.58%) cases of beta-thalassemia major and 397 (38.58%) cases of beta-thalassemia carriers were identified. Among those beta-thalassemia samples, a total of 19 mutations were found, among which the β 654 /β N mutation (168/1029,16.33%) was the main type, followed by the β 41-42 /β N mutation (118/1029,11.47%). There were 136 (13.22%) cases of alpha-thalassemia (silent carrier & minor) and 39 (3.79%) cases of HbH disease. A total of 10 gene mutations were found in the alpha-thalassemia samples, among which the main genotype of deletion α-thalassemia was --SEA /αα(119/1029,11.56%), while non-deletion α-thalassemia was uncommon in our report(2/1129,0.19%) both of which was α WS α/αα. The main genotype of HbH was --SEA /-α 3.7 (28/1029, 2.72%). In 13 (1.26%) cases of αβ-thalassemia, with a total of 9 genotypes were found, among which the more common genotypes were -α 3.7 / β 654 , --SEA/β 41-42 and --SEA/β 17 . The ten main structural hemoglobin variants of 14 (1.36%) cases were Hb E

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A compilation of amino acid analyses of proteins

Kirschenbaum

1975

Analytical Biochemistry

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Hb J sicilia: P 65 (E9) Lys→Asn, a beta homologue of Hb zambia

Cited by 29 publications

References 12 publications

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

"Hemoglobinopathy: Hematologic and Molecular Characteristics in Shanghai, Eastern China"

A compilation of amino acid analyses of proteins

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