High Frequency of α-Thalassemia in the So Ethnic Group of South Laos

Sengchanh, Sourideth; Sanguansermsri, Torpong; Horst, David; Horst, Jürgen; Flatz, G.

doi:10.1159/000087892

Cited by 12 publications

(11 citation statements)

References 22 publications

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“…Laos PDR and Cambodia as well as South Vietnam have been published but not yet included in the database (15)(16)(17)(18)(19). These data are summarized in Table 4.…”

Section: Resultsmentioning

confidence: 99%

Micromapping of Thalassemia and Hemoglobinopathies in Diferent Regions of Northeast Thailand and Vientaine, Laos People's Democratic Republic

et al. 2011

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In order to determine the prevalence of thalassemia and hemoglobinopathies in different regions of northeast (NE) Thailand and Vientiane, Laos People's Democratic Republic (PDR), a total of 1,809 blood samples were collected consecutively from individuals attending antenatal care services at 11 community hospitals in different regions of NE Thailand and three hospitals in Vientiane, Laos PDR, from May 2009 to April 2010. All individuals were investigated for thalassemia and hemoglobinopathies using standard methods. For individuals from NE Thailand, the carrier frequencies were 41.7% for Hb E [β26(B8)Glu→Lys, GAG>AAG], 5.8% for α(0)-thalassemia (α(0)-thal), and 0.9% for β-thal. The THAI deletion type of α(0)-thal was found in one individual from an ethnic minority. From a group of pregnant Laotian women, 30.1% were Hb E carriers. The prevalence of α(0)-thal of 8.6% for the Laotian women was similar to that found in the upper northeastern part of Thailand. The frequency of β-thal was 2.3 %. The proportion of carriers of α(+)-thal and Hb Constant Spring (Hb CS, α142, Term→Gln (TAA>CAA in α2)] ) from Thailand and Laos was significantly different. The frequency of Hb Paksé [α142, Term→Tyr (TAA>TAT in α2)] was relatively low for Thailand as well as for Laos. The results indicate that thalassemia and hemoglobinopathies are a significant health burden in the region and that a prevention and control program for severe thalassemia diseases should be established in Laos.

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“…Laos PDR and Cambodia as well as South Vietnam have been published but not yet included in the database (15)(16)(17)(18)(19). These data are summarized in Table 4.…”

Section: Resultsmentioning

confidence: 99%

Micromapping of Thalassemia and Hemoglobinopathies in Diferent Regions of Northeast Thailand and Vientaine, Laos People's Democratic Republic

et al. 2011

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“…The thalassemias and abnormal hemoglobins constitute a group of the most common hereditary blood disorders in the world caused by quantitative or structural defects in hemoglobin synthesis [2,3]. In our country, a broad range of mutations have been observed, probably because of Turkey's location amongst three continents and the influence of different cultures over the course of history.…”

Section: Discussionmentioning

confidence: 99%

“…Adana is located in the southern part of Turkey and takes place in the eastern Mediterranean coast of the thalassemic belt. Alpha-thalassemia is a genetic defect extremely frequent worldwide, especially in Southeast Asian, Mediterranean, and Middle Eastern populations, and is characterized by the decrease or complete suppression of a-globin polypeptide chains, resulting from over 128 different deletions or point mutations of the alpha globin genes [2,3].…”

Section: Introductionmentioning

confidence: 99%

Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

Bozdoğan

Yüreğir

Büyükkurt

et al. 2014

Indian J Hematol Blood Transfus

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To look over the distribution of the mutations in a large series from Adana province, Southern Turkey, and determine the genotype-phenotype correlation of the frequent mutations. Among the 2500 individuals with mild or moderate anemia, microcytosis, and normal iron levels that were referred to our Genetic Diagnosis Center, a population consisting of 539 individuals were included in the study and tested for alpha-thalassemia mutations by using reverse dot blot hybridization technique. Twelve different mutations were detected in 539 patients. Among the 12 different mutations found, the most frequent mutations were the -a 3.7 (63.3 %), -MED (11.7 %), -20.5 (10.7 %), a2 IVS1(-5nt) (3.9 %), and a2 polyA-2 (3.5 %). The most frequent genotypes were -a 3.7 /aa (35.8 %), -a 3.7 /-a 3.7 (18.9 %), -20.5 /aa (11.5 %), and -MED /aa (10.4 %), respectively. There were statistically significant differences in hematological findings between -a 3.7 /-a 3.7 and -MED /aa, even though both have two mutated genes in the genotype. Our results show that alpha-thalassemia mutations are highly heterogeneous as well as deletional and -a 3.7 single gene deletion is particularly prevalent at Adana province in agreement to other studies from Turkey.

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“…α-Thalassemia (α-thal), characterized by a decreased or a complete lack of synthesis of a globin chain, is one of the most common inherited disorders of hemoglobin (Hb) synthesis worldwide and commonly found in Southeast Asian, Mediterranean and Middle Eastern populations [1,2]. The α-globin gene cluster is located on chromosome 16p13.3 and mutations or deletions affecting either one or more α-globin genes result in α-thal syndromes [3].…”

Section: Introductionmentioning

confidence: 99%

Molecular Characterization of α-Thalassemia in Adana, Turkey: A Single Center Study

et al. 2010

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Background/Aim: α-Thalassemia (α-thal) is a widespread genetic disorder throughout the world caused primarily by reduced synthesis of the α-globin chains, and it has been found at a high incidence in Turkey. Our aim in this study was to determine the frequency and molecular properties of α-thal in Adana, Turkey. Material and Methods: A total of 3,000 individuals comprising premarital couples or patients with anemia were screened between 2007 and 2008. Hematological parameters were analyzed using an automatic cell counter, and to detect the carriers of hemoglobin variants, high-performance liquid chromatography was used. Molecular screening of the α-globin gene was carried out by an Alpha-Globin StripAssay® which is based on multiplex PCR for specific amplification. Results: We have identified 225 cases with α-thal and found that the prevalence of α-thal is 7.5% in this area. In molecular analyses, the α-thal gene mutations α^3.7, α^4.2, --^MED, --^20.5, α^PA-2α, ααα^anti-3.7, and α^PA-1α were detected. Conclusion: Our results showed that the α-thal mutations represent a great heterogeneity and that the -α^3.7 deletion has the highest frequency in Adana.

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High Frequency of α-Thalassemia in the So Ethnic Group of South Laos

Cited by 12 publications

References 22 publications

Micromapping of Thalassemia and Hemoglobinopathies in Diferent Regions of Northeast Thailand and Vientaine, Laos People's Democratic Republic

Micromapping of Thalassemia and Hemoglobinopathies in Diferent Regions of Northeast Thailand and Vientaine, Laos People's Democratic Republic

Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

Molecular Characterization of α-Thalassemia in Adana, Turkey: A Single Center Study

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