Hb A<sub>2</sub>-Agrinio [δ43(Cd2)Glu→Gly(Gag→Ggg)]: A New δ Chain Variant Detected In A Greek Family

Papadakis, Manoussos N.; Drakoulakou, Olga; Papapanagiotou, Elisavet; Pessini, D.; Loutradi-Anagnostou, Aphrodite

doi:10.3109/03630269509005818

Cited by 7 publications

(3 citation statements)

References 10 publications

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“…The prevalence of this allele was expected considering that it is the most common in Sardinians [Moi et al, 1988;Guiso et al, 1996], Greeks [Tzetis et al, 1994;Papadakis et al, 1995], and Greek Cypriots [Trifillis et al, 1993;Paviou et al, 2001]. …”

Section: Discussion Prevalence Of D-globin Gene Defectsmentioning

confidence: 99%

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Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features

Angioletti

Lacerra

Gaudiano³

et al. 2002

Hum. Mutat.

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We characterized mutations and haplotypes of the delta-globin gene (HBD, MIM# 142000) in two regions of southern Italy. Mutations were discovered by screening for individuals with Hb A2<2%. In Basilicata, about 10,000 students were screened and 53 carriers in 43 unrelated families were diagnosed; in Campania, cases were referred through a routine thalassemia counseling service. Twelve alleles were detected. Four were novel variants [Hb A2-Metaponto (g.238C>A), Hb A2-Campania (g.302C>A), Hb A2-Lucania (g.393C>G), and Hb A2-Capri (g.443G>T)]. Hb A2-Lucania was not inherited but had arisen in the propositus. Two were novel mutations in the noncoding regions: the substitutions IVS2+6T>A, presumably affecting the splicing, and g.-126A>T in the GATA motif presumably affecting transcription. All novel alleles were found associated with haplotypes common in the Mediterranean area. The remaining six were alleles already described. The Hb A2-Yialousa (g.82G>T) was the most prevalent (42/63 families). Recurrent homologous crossing-over events have, most likely, linked this allele to Haplotypes IX (24 families), IV (10 families), or III (seven families). The ratio of Haplotypes IX:IV:III was about the same in the two regions. The rare allele Hb A2-NYU (g.39T>A) was found in 11 families from Basilicata associated with Haplotype I. All the 11 families lived in a restricted area extending from the Ionian Coast for 15 km along the Angri and Sinni Rivers. A founder effect most probably gave origin to this isolated group. The remaining four alleles were rare: the 7.2-kb deletion Corfù type (HBD g.-5946_1262del), Hb A2-Mitsero (g.14C>T), Hb A2-Etolia (g.385T>C), Hb A2-Coburg (g.1376G>A). Correlation between genotype and phenotype was established in 103 carriers.

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Section: Discussion Prevalence Of D-globin Gene Defectsmentioning

confidence: 99%

“…The Hb A2-Yialousa (g.82G>T) is the most prevalent in Sardinia [Moi et al, 1988;Guiso et al, 1996], Cyprus [Trifillis et al, 1993], and Greece [Tzetis et al, 1994;Papadakis et al, 1995]. Frequency of carriers of d-thalassemia or Hb A2 variants has not been evaluated until now.…”

Section: Introductionmentioning

confidence: 99%

Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features

Angioletti

Lacerra

Gaudiano³

et al. 2002

Hum. Mutat.

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“…Hb Agrinio was first identified in Agrinio, Greece in 1995 and named after the respective city [ 13 ]. The final clinical manifestations depend on the co-existence of this rare severe qualitative defect with other alpha or beta globin mutations.…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review

Diamantidis,

Pitsava,

Zayed

et al. 2023

Hematology Reports

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Hemoglobin (Hb) Agrinio is a rare non-deletional a-globin mutation observed almost exclusively in Greek, Spanish or other Mediterranean families. The clinical manifestations of a carrier of a single Hb Agrinio mutation (single heterozygosity) depend on the concomitant presence or absence of other mutations or variants in the beta, alpha or other modifying genes. We present a Greek patient harboring a Hb Agrinio variant plus the - -Med alpha deletional allele, having an infrequent severe form of alpha thalassemia, in contrast to the typical alpha thalassemic patient and requiring regular red blood cell (RBC) transfusions and chelation treatment. We also provide a concise literature review regarding alpha thalassemic hemoglobin variants and their molecular and clinical combinations. A phase 2, double-blind, randomized, placebo-controlled, multicenter clinical trial to determine the efficacy and safety of luspatercept (BMS-986346/ACE-536) for the treatment of anemia in adults with alpha thalassemia with the participation of our center is currently recruiting patients (NCT05664737).

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δ-Thalassemic phenotype due to two “novel” δ-globin gene mutations: CD11[GTC → GGC (A8)-HbA2-pylos] and CD 85 [TTT → TCT (F1)-HbA2-etolia]

Drakoulakou

Papapanagiotou²,

Loutradi-Anagnostou³

et al. 1997

Hum. Mutat.

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Hb A₂-Agrinio [δ43(Cd2)Glu→Gly(Gag→Ggg)]: A New δ Chain Variant Detected In A Greek Family

Cited by 7 publications

References 10 publications

Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features

Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features

Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review

δ-Thalassemic phenotype due to two “novel” δ-globin gene mutations: CD11[GTC → GGC (A8)-HbA2-pylos] and CD 85 [TTT → TCT (F1)-HbA2-etolia]

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Hb A2-Agrinio [δ43(Cd2)Glu→Gly(Gag→Ggg)]: A New δ Chain Variant Detected In A Greek Family

Cited by 7 publications

References 10 publications

Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features

Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features

Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review

δ-Thalassemic phenotype due to two “novel” δ-globin gene mutations: CD11[GTC → GGC (A8)-HbA2-pylos] and CD 85 [TTT → TCT (F1)-HbA2-etolia]

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Hb A₂-Agrinio [δ43(Cd2)Glu→Gly(Gag→Ggg)]: A New δ Chain Variant Detected In A Greek Family