Hemoglobin-A2-coburg or α2δ2116 Arg→His (G18)

Sharma, R.S.; Williams, Leslie; Wilson, J. B.; Huisman, T. H. J.

doi:10.1016/0005-2795(75)90065-3

Cited by 31 publications

(6 citation statements)

References 13 publications

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“…This variant has always been identified in the black population,18 19 as is the case of the carrier identified herein, a subject from Equatorial Guinea.…”

Section: Discussionsupporting

confidence: 54%

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Haemoglobinopathies that occur with decreased HbA₂levels: a gene mutation set involving the δ gene at a Spanish centre

et al. 2016

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HbA is an essential parameter in the diagnostics of haemoglobinopathies. HPLC-EC and CZE allow the quantification of HbA. Here, we show that quantification of HbA is critical for the identification of α, δ and βδ thalassaemias. Structural variants are discovered by HPLC. Molecular genetics is required for the proper identification of the mutations. Only with this knowledge is genetic counselling possible.

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“…This variant has always been identified in the black population,18 19 as is the case of the carrier identified herein, a subject from Equatorial Guinea.…”

Section: Discussionsupporting

confidence: 54%

“…Hb A 2 -Yialousa [CD27(B9)Ala>Ser;HBD:c.82G>T] is the most common variant in Sardinia and Greece 7 19. In this study, four patients were identified, all of Spanish origin, which suggests that Hb A 2 -Yialousa is the most common form in Mediterranean populations.…”

Section: Discussionmentioning

confidence: 61%

Haemoglobinopathies that occur with decreased HbA₂levels: a gene mutation set involving the δ gene at a Spanish centre

et al. 2016

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“…Hb A 2 -Coburg was first discovered in a member of a Sicilian family in 1975. 21 This variation is caused by a substitution of arginine with at codon 116 of the HBD gene. On CE, Hb A 2 -Coburg is observed as a small peak located between the S and D Zones.…”

Section: Discussionmentioning

confidence: 99%

Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants

Xu,

Li,

et al. 2023

Int J Lab Hematology

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IntroductionMutations in the hemoglobin subunit delta (HBD) gene (MIM#142000) are associated with decreased levels of the Hemoglobin A2 (Hb A2) fraction. We aimed to examine the prevalence of HBD gene mutations and summarize their characteristics in the Chinese population.MethodsIndividuals who exhibited Hb A2 levels below 1.8%, with or without Hb A2 variant peaks, were chosen for further investigation. Hemoglobin analysis was conducted using capillary electrophoresis. Common α and β‐thalassemia in China were detected using gap‐PCR and reverse dot blot hybridization. The presence of HBD gene mutations was confirmed by DNA sequencing.ResultsA total of 188 patients were identified as carriers of the HBD gene mutation, with a prevalence of approximately 0.46%. We discovered 36 types of mutations, 30 of which resulted in δ‐globin variants, while the remaining 6 resulted in δ‐thalassemia. The most common mutation was HBD:c.‐127 T > C, accounting for 87.2% of δ‐thalassemia cases. In addition, we identified 11 novel HBD gene mutations and found 10 cases compounded with other common thalassemias.ConclusionWe observed a high prevalence of HBD gene mutations in southern China. Our findings provide a genetic basis for screening for δ‐thalassemia and enrich the spectrum of HBD gene mutations.

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“…Therefore, the couple was at risk for having children [11]. Hb A 2 -India is the third such variant involving amino acid residue 116, the others being Hb A 2 -Coburg (HBD g.1376G!A) [13] and Hb A 2 -Troodos (HBD g.1375C!T) [14]. In this particular case, Hb A 2 -India was linked in cis to a b 0 -thalassemia mutation that is common in East Indian populations, codon 15 TGG!…”

Section: Discussionmentioning

confidence: 99%

β‐thalassemia in association with a new δ‐chain hemoglobin variant [δ116(g18)Arg→Leu]: Implications for carrier screening and prenatal diagnosis

et al. 2003

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We describe a complicated genetic counseling and prenatal diagnostic case involving an East Indian couple that had lost two consecutive pregnancies. Hemoglobinopathy screening was conducted to investigate the possibility of Hb Bart's hydrops fetalis or Hb H hydrops fetalis. The initial work-up indicated that a-thalassemia was not a contributing factor, with both parents being carriers of single gene deletions (-a 3.7 /aa). However, the Hb electrophoresis results indicated that the couple might be at risk for having children with Hb E/Hb Lepore disease. Subsequent DNA testing demonstrated that the father carried the Hb E mutation, but failed to confirm that the mother carries the Hb Lepore deletion. Sequence analysis revealed that the mother was heterozygous for a common East Indian b 0 -thalassemia mutation, yet had a normal level of Hb A 2 . The mother also carried a previously unreported missense mutation of the d-globin gene, in cis with the b 0 -thalassemia mutation, which gave rise to the minor Hb variant originally misidentified as Hb Lepore. This case illustrates the importance of comprehensive molecular analyses for accurate assessment of genetic risks for hemoglobinopathy syndromes. Am. J. Hematol. 74:179-181, 2003. ª 2003 Key words: b-thalassemia; carrier screening; genetic risks; pregnancy CASE REPORTWe report the case of a Canadian couple of East Indian descent with a history of two previous pregnancy losses. The first pregnancy showed significantly retarded fetal growth and it died in utero at a calculated gestational age of 31 weeks. The autopsy revealed significant intrauterine growth restriction with fetal parameters consistent with a gestational age of 24-25 weeks. There was evidence of significant hydrops fetalis, with general edema and fluid in the pleural pericardial and peritoneal cavities. The placenta was small, with multiple intravilis thrombi and a few nucleated cells. The liver and spleen were small and pale and the heart had one focus of extramedullary hematopoiesis. The second pregnancy ended in a spontaneous abortion at 6 weeks gestation.The couple was referred for genetic counseling during the first trimester of the third pregnancy, at which time hemoglobinopathy screening was conducted to rule out the possibility of Hb Bart's hydrops fetalis or Hb H hydrops fetalis [1]. DNA analysis of the aglobin gene demonstrated that both parents carried the rightward single a-globin gene deletion (-a 3.7 /aa), making it unlikely that a-thalassemia was a contributing factor in the previous pregnancy losses. The relevant hematology results for the parents are shown in Table I. The father's CBC and hemoglobin electrophoresis results were consistent with Hb E trait. The

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Hemoglobin-A2-coburg or α2δ2116 Arg→His (G18)

Cited by 31 publications

References 13 publications

Haemoglobinopathies that occur with decreased HbA₂levels: a gene mutation set involving the δ gene at a Spanish centre

Haemoglobinopathies that occur with decreased HbA₂levels: a gene mutation set involving the δ gene at a Spanish centre

Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants

β‐thalassemia in association with a new δ‐chain hemoglobin variant [δ116(g18)Arg→Leu]: Implications for carrier screening and prenatal diagnosis

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Hemoglobin-A2-coburg or α2δ2116 Arg→His (G18)

Cited by 31 publications

References 13 publications

Haemoglobinopathies that occur with decreased HbA2levels: a gene mutation set involving the δ gene at a Spanish centre

Haemoglobinopathies that occur with decreased HbA2levels: a gene mutation set involving the δ gene at a Spanish centre

Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants

β‐thalassemia in association with a new δ‐chain hemoglobin variant [δ116(g18)Arg→Leu]: Implications for carrier screening and prenatal diagnosis

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Haemoglobinopathies that occur with decreased HbA₂levels: a gene mutation set involving the δ gene at a Spanish centre

Haemoglobinopathies that occur with decreased HbA₂levels: a gene mutation set involving the δ gene at a Spanish centre