Alpha thalassaemia in Sardinian newborns

Galanello, Renzo; Maccioni, Liliana; Ruggeri, R; Perseu, L; Cao, Antonio

doi:10.1111/j.1365-2141.1984.tb06095.x

Cited by 14 publications

(10 citation statements)

References 25 publications

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“…Moreover, Nco I mapping demonstrated in two of them the presence of the initiation codon mutation (ATG+ACG) of the a2 gene (aNcOa/aa), (13) which is the most common non- deletion a-thalassemia defect in Sardinians (20). A similar conclusion was drawn in previous studies in full-term newborns from Asian as well as Mediterranean populations (14,15). The incidence of the different a-thalassemia determinants found in prematurely born infants in this study is similar to that detected in full-term newborns from the same population (1 4) suggesting that a-thalassemia in the form of the defect of one, two, or three a-globin structural genes has no detrimental effect on the outcome of the pregnancy unlike the deletion of four a-globin genes which produces fetal hydrops and maternal toxemia (3).…”

Section: Discussionsupporting

confidence: 70%

“…In the neonatal period, a minority (40-50%) of those infants with a single a-globin gene deletion (-alas) express phenotypically with Hb Bart's in the 1-3% range, associated frequently with minimal microcytosis (4,14). However, the majority is completely silent.…”

mentioning

confidence: 99%

“…However, the majority is completely silent. Those infants with the deletion of two a-globin structural genes (-a/-a and --/aa genotypes) show consistently increased Hb Bart's in the 3-8% range and thalassemia-like hematological manifestations (4,14,16). Infants with Hb H disease (-a/--) have 25% Hb Bart's and moderate microcytic anemia (4).…”

mentioning

confidence: 99%

“…Infants with Hb H disease (-a/--) have 25% Hb Bart's and moderate microcytic anemia (4). Infants, heterozygous for a nondeletion lesion (initiation codon mutation of the a 2 gene) (13), showed Hb Bart's levels within the range found in infants with the (-a/a~t) genotype (14).…”

mentioning

confidence: 99%

“…Sardinians are an ideal population for studying the hematological manifestations of a-thalassemia in premature newborns because the different types of this disorder occur with a high frequency in this population ( 14).…”

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confidence: 99%

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α-Thalassemia in Premature Newborns

et al. 1986

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ABSTRACT. In this study we have carried out a-globin gene mapping, hemoglobin (Hb) Bart's quantitation serum bilirubin, and red blood cell indices determination in a group of Sardinian appropriate for gestational age premature infants (from 32 to 35 wk gestation) in order to define the incidence in this population of the different a-thalassemia syndromes, their expression rate, and the correlation between the a-globin genotype and phenotype at this developmental stage. The gene frequencies of deletion (-a) and nondeletion (aath) a-thalassemia were 0.29 and 0.04, respectively, and thus not different from those found in full-term newborns from the same population. The majority of premature newborns with a single a-globin gene deletion [(-alas) genotype] were hematologically silent. Those who manifested increased Hb Bart's (1.2 to 3.

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Section: Discussionsupporting

confidence: 70%

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confidence: 99%

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confidence: 99%

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confidence: 99%

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confidence: 99%

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α-Thalassemia in Premature Newborns

et al. 1986

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α-thalassemia carrier identification by DNA analysis in the screening for thalassemia

et al. 1998

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Differentiation between heterozygous alpha-thalassemia and several phenotypically resembling alleles at the beta-globin gene cluster such as coinherited delta- and beta-thalassemia or gammadelta beta-thalassemia is a critical step in genetic counseling. In this paper we report our experience in the identification of the alpha-thalassemia carrier state using polymerase chain reaction (PCR)-based methods, and the feasibility and simplification of screening for thalassemia using this approach. Alpha-globin genotype was determined by PCR-based method in 526 adult subjects with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), normal hemoglobin A2 and F, and normal serum iron. To verify the reliability of the protocol used, in 68 of these subjects we performed globin chain synthesis analysis and in 101 we determined alpha-globin genotype by Southern blot analysis. Five hundred twenty-one (99%) of 526 subjects examined were identified as carriers of one or two alpha-thalassemia alleles. The identification of the alpha-thalassemia carrier state may be fast and accurate by PCR-based method, avoiding other cumbersome and expensive methods such as globin chain synthesis and Southern blot analysis.

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α‐thalassemia carrier identification by DNA analysis in the screening for thalassemia

et al. 1998

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Differentiation between heterozygous ␣-thalassemia and several phenotypically resembling alleles at the ␤-globin gene cluster such as coinherited ␦-and ␤-thalassemia or ␥␦␤-thalassemia is a critical step in genetic counseling. In this paper we report our experience in the identification of the ␣-thalassemia carrier state using polymerase chain reaction (PCR)-based methods, and the feasibility and simplification of screening for thalassemia using this approach. ␣-Globin genotype was determined by PCR-based method in 526 adult subjects with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), normal hemoglobin A 2 and F, and normal serum iron. To verify the reliability of the protocol used, in 68 of these subjects we performed globin chain synthesis analysis and in 101 we determined ␣-globin genotype by Southern blot analysis. Five hundred twenty-one (99%) of 526 subjects examined were identified as carriers of one or two ␣-thalassemia alleles. The identification of the ␣-thalassemia carrier state may be fast and accurate by PCR-based method, avoiding other cumbersome and expensive methods such as globin chain synthesis and Southern blot analysis. Am.

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Alpha thalassaemia in Sardinian newborns

Cited by 14 publications

References 25 publications

α-Thalassemia in Premature Newborns

α-Thalassemia in Premature Newborns

α-thalassemia carrier identification by DNA analysis in the screening for thalassemia

α‐thalassemia carrier identification by DNA analysis in the screening for thalassemia

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