Nondeletional α-thalassemia: First description of αHphα and αNcoα mutations in a Spanish population

Ayala, Sonia; Colomer, Dolors; Aymerich, Marta; Pujades, A.; Vives-Corrons, JL

doi:10.1002/(sici)1096-8652(199607)52:3<144::aid-ajh3>3.0.co;2-t

Cited by 16 publications

(11 citation statements)

References 29 publications

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“…The patient from Mazandaran carried the IVS-II-55 mutation in combination with Hb CS (MCV: 73.2 fL, MCH: 24.1 pg, Hb A 2 : 2.1%). Overall, the spectrum and frequencies of nondeletional a-globin mutations in our patients was remarkable and seems to differ considerably from what was found in Mediterranean populations (19).…”

Section: Discussioncontrasting

confidence: 84%

α-Thalassemia Mutation Analyses in Mazandaran Province, North Iran

Tamaddoni

Hadavi²,

Nejad³

et al. 2009

Hemoglobin

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Two hundred and fifty-five patients from Mazandaran Province, Iran, all presenting with hypochromic and microcytic anemia, were selected for alpha-thalassemia (alpha-thal) mutation screening. We detected a total of 274 alpha-globin mutations in 227 (89%) of these patients. Among the 21 different alpha-globin alleles found, the -alpha(3.7) (44.9%), polyadenylation signal 2 (poly A2) (AATAAA>AATGAA) (18.2%), -alpha(4.2) (9.1%), alpha(IVS-I(-5 nt)) (6.5%), - -(MED) (4.3%), and alpha(codon 19 (-G)) (4%) were the most frequent. The other 15 mutations included variants that had not yet been observed in Iran, such as Hb Bleuland [alpha108(G15)ThrAsn, ACC>AAC (alpha2)], as well as a novel mutation on the alpha2 gene, also not described to date [3 ' untranslated region (3 'UTR) nucleotide (nt) 46 (C>A)]. These comprehensive new data are useful for establishing a screening strategy for the effective control of alpha-thal in Mazandaran Province.

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Section: Discussioncontrasting

confidence: 84%

α-Thalassemia Mutation Analyses in Mazandaran Province, North Iran

Tamaddoni

Hadavi²,

Nejad³

et al. 2009

Hemoglobin

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“…The α2 IVS-I donor site deletion is considered to be a Mediterranean mutation (3,9,15) and Hb CS rather as a Middle Eastern, Mediterranean and Southeast Asian one (3,6,(16)(17)(18). However, the relatively high prevalence of each mutation (12.2 and 8.8%, respectively), analyzed in nondeletional α-globin genes of mild anemic patients, confirms the heterogeneity of the studied population, also previously reported in βthal carriers (19,20).…”

Section: Discussionsupporting

confidence: 80%

“…In those at-risk regions, methods allowing rapid, cost effective and accurate diagnosis of molecular defects of α-globin genes are welcome. Although a PCR-RFLP method using the HphI restriction enzyme is commonly performed for detection of the α2 IVS-I donor site deletion (8)(9)(10), this is the first time that a PCRbased method, which allows simultaneous characterization of two common α-globin point mutations, is described. This rapid, accurate and low cost method can be useful for rapid characterization of the α2 IVS-I donor site and Readthrough mutations such as Hb CS (α2) for genotype-phenotype analysis and appropriate genetic counseling.…”

Section: Discussionmentioning

confidence: 99%

Simultaneous Detection of Hb Constant Spring (α142, TAA>CAA, α2) and The α2 IVS-I Donor Site (−TGAGG) Deletion by a Simple Polymerase Chain Reaction-Based Method in Iran

et al. 2012

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Hb Constant Spring (Hb CS, codon 142, TAA>CAA, α2) (HBA2:c.427T>C) and α2 IVS-I donor site (GAGGTGAGG>GAGG - - - - -) (HBA2:c.95+2_95+6delTGAGG) are nondeletional α-thalassemia (α-thal) mutations found all over the world. Identification of α-thal genotypes in at-risk couples for severe anemia or in highly heterogeneous populations requires rapid, accurate and cost-effective genotyping methods. In this study, a pair of primers were used to specifically amplify an 883 bp fragment from the α2-globin gene in order to simultaneously identify these two mutations by a PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method. We determined the genotypic frequencies of Hb CS and the α2 IVS-I donor site mutations after amplification and enzymatic digestion with Tru9I in 238 northern Iranian samples referred for α-thal testing. Hb CS and the α2 IVS-I donor site mutations accounted for 21 (8.8%) and 29 (12.2%) of the nondeletional cases. This genotyping assay has proven to be a rapid, reliable and useful diagnostic tool for simultaneous detection of these two anomalies for genetic counseling or further prenatal diagnosis.

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“…10 DNA was extracted from whole blood using a 13,14 For point mutation analysis others than Nco, Hph, Hb CS and for structural alterations, amplification of the α 2 and α 1 globin genes was performed as previously described by using oligonucleotide primers (CyberSyn, Lenni, PA, USA). The amplified genes were subsequently purified and analyzed by direct sequencing.…”

Section: Methodsmentioning

confidence: 99%

Alpha Hemoglobinophaties in Rosario, Argentina

Louzao

Pérez

Pratti

et al. 2016

Thalassemia Reports

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Hemoglobinopathies are the most common recessive diseases worldwide. While the molecular basis of b-thalassemia in Rosario has been addressed, that of α-thalassemia and α structural alterations, has not. In this study 105 individuals from different families referred to our center were investigated for alpha hemoglobinopathies because of low MCV (<85 fL), low MCH (<27dg), normal HbA2 (≤3.5%) and transferrin saturation of >15%. Six of them with a clinical phenotype of thalassemia intermedia were diagnosed as Hb H disease (five cases) and Hb H like (one case). It also included one patient with sickle cell trait, confirmed by hematological and molecular studies. We were able to identify alpha globin genes mutations in 92 individuals (87.6%): 88 patients with alpha thalassemia, 3 patients with structural alterations and one with both. In total, 13 individuals (12.4%) had no identified α-globin mutation. This study is the first to deal with the molecular basis of α-hemoglobinophaties in Rosario.

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Nondeletional α-thalassemia: First description of αHphα and αNcoα mutations in a Spanish population

Cited by 16 publications

References 29 publications

α-Thalassemia Mutation Analyses in Mazandaran Province, North Iran

α-Thalassemia Mutation Analyses in Mazandaran Province, North Iran

Simultaneous Detection of Hb Constant Spring (α142, TAA>CAA, α2) and The α2 IVS-I Donor Site (−TGAGG) Deletion by a Simple Polymerase Chain Reaction-Based Method in Iran

Alpha Hemoglobinophaties in Rosario, Argentina

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