Hb Campinas [α26(B7)Ala→Val]: A Novel, Electrophoretically Silent, Variant

Wenning, M.R.S.C.; Silva, N M; Jorge, Susan E.; Kimura, Eiichiro; Costa, Fernando Ferreira; Torsoni,; Ogo, Satie Hatsushika; Sonati, M.F.

doi:10.3109/03630260009003434

Cited by 5 publications

(4 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Hb Campinas (a26Ala® Val) was identified in a Caucasian boy whose ethnic origin was unknown. This electrophoretically silent variant, not described previously, results from a base substitution at the 26th codon of the a 2 gene (GCG®GTG) (24). These structural alterations are summarized in Table 2.…”

Section: Resultsmentioning

confidence: 73%

See 1 more Smart Citation

alpha-Globin genes: thalassemic and structural alterations in a Brazilian population

Wenning

Kimura

Costa

et al. 2000

Braz J Med Biol Res

View full text Add to dashboard Cite

show abstract

Section: Resultsmentioning

confidence: 73%

“…Hbs G-Pest, Kurosaki and Westmead were detected in a screening program, but in carriers with ethnic origins different from those of the original descriptions, suggesting de novo mutations. Hb Campinas was a novel silent variant encountered in a Caucasian boy of unknown descent (24).…”

Section: Discussionmentioning

confidence: 99%

alpha-Globin genes: thalassemic and structural alterations in a Brazilian population

Wenning

Kimura

Costa

et al. 2000

Braz J Med Biol Res

View full text Add to dashboard Cite

show abstract

“…Two other Hb variants at codon 26 of HBA2 have previously been described, Hb Campinas C→T, Ala→Val (Wenning et al , 2000) and Hb Shenyang C→A, Ala→Glu (Zeng et al , 1982). The first variant was found to be functionally normal, while the latter abnormal Hb was slightly unstable.…”

Section: Discussionmentioning

confidence: 99%

Hb Southern Italy: coexistence of two missence mutations (the Hb Sun Prairie α₂ 130 Ala → Pro and Hb Caserta α₂ 26 Ala → Thr) in a single HBA2 gene

et al. 2008

View full text Add to dashboard Cite

Summary This study describes a new molecular condition in the α2‐globin gene (HBA2) found in six unrelated families from Southern Italy (Campania and Sicily). This new double mutant form of haemoglobin is called Hb Southern Italy and originated from the coexistence of two known mutations occurring in the same globin gene, HBA2 26 G→A (Hb Caserta) and HBA2 130 G→C (Hb Sun Prairie). Hb Sun Prairie was originally observed in Indian patients in either the homozygous state, with severe hemolytic anemia, and in the heterozygous state with microcytosis, or in asymptomatic cases as an α‐thalassemia carrier phenotype. Hb Caserta was observed for the first time in a Casertian family (South Italy) that displayed a slowmigrating haemoglobin upon investigation. We report the clinical phenotype and molecular study of this new double mutant form of haemoglobin in heterozygous and homozygous subjects, as well as in association with α° delectional thalassemia.

show abstract

“…Hb Campinas [HBA2:c.80C>T p.Ala26Val] was first described in a nine-year-old boy and his mother and later was observed in three related individuals during a hemoglobinopathy screening program. 14 …”

Section: Resultsmentioning

confidence: 99%

Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals

Kimura

Oliveira

Jorge

et al. 2015

Revista Brasileira de Hematologia e Hemoterapia

View full text Add to dashboard Cite

BackgroundBrazil has a multiethnic population with a high diversity of hemoglobinopathies. While screenings for beta-globin mutations are far more common, alterations affecting alpha-globin genes are usually more silent and less well known. The aim of this study was to describe the results of a screening program for alpha-globin gene mutations in a representative sample of the Southeastern Brazilian population.MethodsA total of 135,000 individuals, including patients with clinical suspicion of hemoglobinopathies and their family members, randomly chosen individuals submitted to blood tests and blood donors who were abnormal hemoglobin carriers were analyzed. The variants were screened by alkaline and acid electrophoreses, isoelectric focusing and cation-exchange high performance liquid chromatography (HPLC) and the abnormal chains were investigated by reverse-phase high performance liquid chromatography (RP-HPLC). Mutations were identified by molecular analyses, and the oxygen affinity, heme–heme cooperativity and Bohr effect of the variants were evaluated by functional tests.ResultsFour new and 22 rare variants were detected in 98 families. Some of these variants were found in co-inheritance with other hemoglobinopathies. Of the rare hemoglobins, Hasharon, Stanleyville II and J-Rovigo were the most common, the first two being S-like and associated with alpha-thalassemia.ConclusionThe variability of alpha-globin alterations reflects the high degree of racial miscegenation and an intense internal migratory flow between different Brazilian regions. This diversity highlights the importance of programs for diagnosing hemoglobinopathies and preventing combinations that may lead to important clinical manifestations in multiethnic populations.

show abstract

Hb Campinas [α26(B7)Ala→Val]: A Novel, Electrophoretically Silent, Variant

Cited by 5 publications

References 8 publications

alpha-Globin genes: thalassemic and structural alterations in a Brazilian population

alpha-Globin genes: thalassemic and structural alterations in a Brazilian population

Hb Southern Italy: coexistence of two missence mutations (the Hb Sun Prairie α₂ 130 Ala → Pro and Hb Caserta α₂ 26 Ala → Thr) in a single HBA2 gene

Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals

Contact Info

Product

Resources

About

Hb Campinas [α26(B7)Ala→Val]: A Novel, Electrophoretically Silent, Variant

Cited by 5 publications

References 8 publications

alpha-Globin genes: thalassemic and structural alterations in a Brazilian population

alpha-Globin genes: thalassemic and structural alterations in a Brazilian population

Hb Southern Italy: coexistence of two missence mutations (the Hb Sun Prairie α2 130 Ala → Pro and Hb Caserta α2 26 Ala → Thr) in a single HBA2 gene

Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals

Contact Info

Product

Resources

About

Hb Southern Italy: coexistence of two missence mutations (the Hb Sun Prairie α₂ 130 Ala → Pro and Hb Caserta α₂ 26 Ala → Thr) in a single HBA2 gene