The α-Thalassemias

Piel, Frédéric B.; Weatherall, D. J.

doi:10.1056/nejmra1404415

Cited by 324 publications

(277 citation statements)

References 51 publications

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“…Even in patients with more severe forms of thalassemia intermedia, Hb levels are >7 g/dL (Table 1) and they may drop in case of intercurrent events such infection, surgery, pregnancy. Family [26]. Both these conditions require a differential diagnosis with iron deficiency and in case hematological parameters must be reevaluated after iron supplementation.…”

Section: Beta-tha Las Semia Maj or And Intermediamentioning

confidence: 99%

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Laboratory diagnosis of thalassemia

Brancaleoni

Pierro

Motta

et al. 2016

Int J Lab Hematology

168

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Summary The thalassemias can be defined as α‐ or β‐thalassemias depending on the defective globin chain and on the underlying molecular defects. The recognition of carriers is possible by hematological tests. Both α‐ and β‐thalassemia carriers (heterozygotes) present with microcytic hypochromic parameters with or without mild anemia. Red cell indices and morphology followed by separation and measurement of Hb fractions are the basis for identification of carriers. In addition, iron status should be ascertained by ferritin or zinc protoporphyrin measurements and the iron/total iron‐binding capacity/saturation index. Mean corpuscular volume and mean corpuscular hemoglobin are markedly reduced (mean corpuscular volume: 60–70 fl; MCH: 19–23 pg) in β‐thalassemia carriers, whereas a slight to relevant reduction is usually observed in α‐carriers. HbA2 determination is the most decisive test for β‐carrier detection although it can be disturbed by the presence of δ‐thalassemia defects. In α‐thalassemia, HbA2 can be lower than normal and it assumes significant value when iron deficiency is excluded. Several algorithms have been introduced to discriminate from thalassemia carriers and subjects with iron‐deficient anemia; because the only discriminating parameter is the red cell counts, these formulas must be used consciously. Molecular analysis is not required to confirm the diagnosis of β‐carrier, but it is necessary to confirm the α‐thalassemia carrier status. The molecular diagnosis is essential to predict severe transfusion‐dependent and intermediate‐to‐mild non‐transfusion‐dependent cases. DNA analysis on chorionic villi is the approach for prenatal diagnosis and the methods are the same used for mutations detection, according to the laboratory facilities and expertise.

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Section: Beta-tha Las Semia Maj or And Intermediamentioning

confidence: 99%

“…Fetal blood contains only Hb Bart's hydrops fetalis syndrome (c 4 ) and a small amount of embryonic Hb Portland. In these cases, prenatal diagnosis is indicated; therefore, the diagnosis of the carrier parents is mandatory [26].…”

Section: Alpha-th Ala Ssemia: Symptomat Ic Fo Rmsmentioning

confidence: 99%

Laboratory diagnosis of thalassemia

Brancaleoni

Pierro

Motta

et al. 2016

Int J Lab Hematology

168

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“…Despite the test is laborious and costly, it can identify the number of loci Hence, genetic testing is the gold standard [1]. There are now many different polymerase chain reaction (PCR)-based techniques available for the most common alpha-thalassemia mutations [7].…”

Section: Genetic Testingmentioning

confidence: 99%

“…Approximately 5% of the world's population carries mutant or variant alleles over the α-globin gene, with the high frequencies throughout most of Southeastern Asia (SEA), the Mediterranean area, the Indian subcontinent, the Middle East and Africa. In SEA region, the frequency of α 0 -thalassemia variants (αα/--) is about 5-15% [1]. Among Taiwanese, the carrier rate of alpha-thalassemia is approximately 5-7% [2].…”

Section: Introductionmentioning

confidence: 99%

Lessons Learned from Two Missed Prenatal Cases of Hemoglobin BartÃ¢ÂÂs Hydrops Fetalis Until Second Trimester Despite a Nationwide Screening Program

Wu¹,

Gc²,

Pc³

et al. 2015

Hereditary Genetics

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“…Alpha thalassemia (thal) is probably the most common single gene disorders worldwide. 1 There is strong evidence from population data that malaria selection explains the current distribution of the thalassemia. The one notable exception is South America, where in evolutionary terms malaria was introduced only relatively recently.…”

Section: Introductionmentioning

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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The α-Thalassemias

Cited by 324 publications

References 51 publications

Laboratory diagnosis of thalassemia

Laboratory diagnosis of thalassemia

Lessons Learned from Two Missed Prenatal Cases of Hemoglobin BartÃ¢ÂÂs Hydrops Fetalis Until Second Trimester Despite a Nationwide Screening Program

Alpha Hemoglobinophaties in Rosario, Argentina

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The α-Thalassemias

Cited by 324 publications

References 51 publications

Laboratory diagnosis of thalassemia

Laboratory diagnosis of thalassemia

Lessons Learned from Two Missed Prenatal Cases of Hemoglobin BartÃ¢ÂÂs Hydrops Fetalis Until Second Trimester Despite a Nationwide Screening Program

Alpha Hemoglobinophaties in Rosario, Argentina

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Resources

About

Lessons Learned from Two Missed Prenatal Cases of Hemoglobin BartÃ¢ÂÂs Hydrops Fetalis Until Second Trimester Despite a Nationwide Screening Program