Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population

Suemasu, C.N.; Kimura, Elza; Oliveira, De; Bezerra, Marcos André Cavalcanti; Araújo, Aderson S; Costa, Fernando Ferreira; Sonati, M.F.

doi:10.1590/s0100-879x2010007500144

Cited by 8 publications

(5 citation statements)

References 32 publications

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“…Thus, the --DANE deletion is new as it does not match any published a 0 -globin deletions. This novel deletion adds to recent discoveries of new a 0 deletions, where MLPA has emerged as a widely used and easily accessible method for the detection of unknown deletions and localizing breakpoints (12)(13)(14)(15).…”

Section: Discussionmentioning

confidence: 97%

Novel 31.2 kbα⁰Deletion in a Palestinian Family withα-Thalassemia

et al. 2015

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A previously unknown α(0) deletion, designated - -(DANE), was found in three generations of a Danish family of Palestinian origin. Six patients were heterozygous and three patients had deletional Hb H (β4) disease with a compound heterozygosity for the common -α(3.7) (rightward) deletion. Multiplex ligation-dependent probe amplification (MLPA) supplemented by repeated polymerase chain reaction (PCR) amplification identified the 5' and 3' breakpoints in the α-globin gene cluster. This novel 31.2 kb deletion (NG_000006.1: g.8800_40007del31208) leads to the removal of the HBZ, HBA2 and HBA1 genes.

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Section: Discussionmentioning

confidence: 97%

Novel 31.2 kbα⁰Deletion in a Palestinian Family withα-Thalassemia

et al. 2015

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“…MLPA is a hybridization-based method that has been used for many years to screen deletions and duplications. For this reason, the MLPA method is often used to elucidate the genetic basis of alpha thalassemias (24). The advantages of the MLPA method over other methods in the genetic basis of alpha thalassemia have been reported in the studies of Yüreğir and Colosimo et al (13,25).…”

Section: Discussionmentioning

confidence: 99%

Retrospective Analysis of Alpha Globin Copy Number Variations Determined by Mlpa in the Trakya Region

Demır¹,

Gürkan²,

Eker³

et al. 2021

jmed

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Objective: Alpha thalassemia is a common type of hemoglobinopathy that occurs as a result of deletions or point mutations in the alpha globin gene cluster. The molecular analysis of alpha thalassemia is challenging due to the presence of genes with high sequence similarities in alpha globin gene clusters and pseudogenes. As well as in all genetic diseases, determining the causative mutation types of alpha thalassemia and their frequencies have critical importance for accurate genetic screening and prevention strategies.Material and Method: In our study, alpha globin copy number variations determined by the MLPA (Multiplex Ligation-dependent Probe Amplification) method were examined retrospectively with suspicion of alpha thalassemia in 35 female and 43 male patients tested in the Genetic Diseases Diagnosis Center of the Medical Genetics Department at Trakya University Faculty of Medicine. Results:The most common deletion among our patients was the −α 3.7 (35.3%) deletion, followed by the -α 20.5 (10.3%) deletion. The -α SEA deletion was detected in three patients while 4 out of 78 cases were found to have the -α MED deletion. In three patients, a heterozygous large deletion and in one case HS40 regulatory region deletion were detected. In 14 (18%) of the patients, α globin triplications were detected. The -α 4.2 deletion was detected in only one of our patients. Conclusion:Our study is the first to report the presence of eight different alpha globin copy number changes and 13 different alpha globin genotypes in the Trakya region.

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“…Previously PCR based methods such as RDB, multiplex PCR, quantitative real-time PCR were used extensively as diagnostic tools [14]. As MLPA is a convenient alternative method for detecting deletions it has recently been a compelling choice for mutation analysis of a-thalassemias [15].…”

Section: Discussionmentioning

confidence: 99%

Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey

Yüreğir¹,

Ayaz²,

Yalçıntepe³

et al. 2015

Indian J Hematol Blood Transfus

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α-thalassemia is the most common single gene disorder in the Cukurova Region in Turkey. It is therefore routinely screened, including premaritally, in our region. The heterogeneous molecular basis of the disease makes α-thalassemia mutation detection difficult and complex. Besides well established methods, multiplex ligation dependent probe amplification (MLPA) is known as an effective, simple and specific method for the detection and characterization of deletions and duplications. We employed MLPA testing to 30 patients with hematological parameters suggestive of α-thalassemia carrier status but was negative for α-thalassemia with conventional reverse dot blot hybridization (RDB). We found α-globin gene deletions in 3 out of 30 (10 %) patients with MLPA. We propose that MLPA can be used as a second tier test in addition to other techniques such as RDB to identify α-thalassemia carriers in high prevalence regions such as ours, thereby allowing clinicians to provide accurate genetic counselling.

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Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population

Cited by 8 publications

References 32 publications

Novel 31.2 kbα⁰Deletion in a Palestinian Family withα-Thalassemia

Novel 31.2 kbα⁰Deletion in a Palestinian Family withα-Thalassemia

Retrospective Analysis of Alpha Globin Copy Number Variations Determined by Mlpa in the Trakya Region

Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey

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Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population

Cited by 8 publications

References 32 publications

Novel 31.2 kbα0Deletion in a Palestinian Family withα-Thalassemia

Novel 31.2 kbα0Deletion in a Palestinian Family withα-Thalassemia

Retrospective Analysis of Alpha Globin Copy Number Variations Determined by Mlpa in the Trakya Region

Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey

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Novel 31.2 kbα⁰Deletion in a Palestinian Family withα-Thalassemia

Novel 31.2 kbα⁰Deletion in a Palestinian Family withα-Thalassemia