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2.
Hemoglobin ; 43(4-5): 245-248, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31687860

RESUMO

The capillary electrophoresis (CE) system allows the quantification of Hb Bart's (γ4) and Hb H (ß4) that is used for screening of Hb H disease. However, Hb Bart's hydrops fetalis and Hb H are not always codetected in patients with Hb H disease. In this study, 35 samples were analyzed for the α0-thalassemia (α0-thal) [- -SEA (Southeast Asian) and - -THAI (Thailand)] deletions and the α+-thal [-α3.7 (rightward) and -α4.2 (leftward)] type deletions using real time-polymerase chain reaction (real time-PCR) with SYBR Green1 and high-resolution melting (HRM) analysis and conventional gap-PCR techniques, respectively. Results showed that 28 of 29 (96.6%) samples with the Hb A2-Hb H phenotype on CE electrophoregrams presented the genotype of - -SEA/-α3.7, while the - -SEA/-α4.2 made up the remainder. The - -SEA/-α3.7 genotype was also found in all six samples (100.0%) with Hb A2-Hb Bart's on CE electrophoregrams. Thus, for genetic counseling, prevention and control programs of Hb Bart's hydrops fetalis and Hb H disease, α-thal genotype analysis is required.

3.
Hemoglobin ; 43(3): 214-217, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31450984

RESUMO

We report the molecular and hematological identifications of a Hb A2 variant [coinheritance of Hb A2-Melbourne (HBD: c.130G>A) and Hb E (HBB: c.79G>A)] found for the first time in the Lao People's Democratic Republic (PDR). The subject was a 29-year-old pregnant Laotian woman who was a foreign worker in Thailand and was diagnosed with thalassemia and hemoglobinopathies. Capillary electrophoresis (CE) demonstrated 1.6% of Hb A2, with a minor unknown peak at the initial Z1 zone (1.7%). Identification of abnormal hemoglobin (Hb) using direct DNA sequencing showed a genetic defect causing a δ-globin gene missense mutation at codon 43 (GAG>AAG) causing a glutamic acid to lysine substitution corresponding to Hb A2-Melbourne. The origin of Hb A2-Melbourne in Lao PDR may be similar to a case found in Thailand with the [+ - - - - + +] haplotype. We developed a method that could clearly detect Hb A2-Melbourne and Hb A2-Lampang (HBD: c.142G>A) mutations in a single tube using high resolution melt (HRM) analysis. The HRM analysis is a more effective method for rapid detection than conventional polymerase chain reaction (PCR), as there is no need for a post-PCR step, and no exposure to ethidium bromide. This new method would be a useful addition for the first investigation of a suspected Hb A2 variant in the routine molecular setting.

4.
Hemoglobin ; 43(1): 63-65, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31037981

RESUMO

Hb A'2 (or Hb B2) (HBD: c.49G>C) is the most frequent δ chain variant that has been described in Africa but not in Thailand. We report here a 10-month-old Thai infant with compound heterozygosity for ß0 codon 17 (A>T; HBB: c.52A>T) and ß+ IVS II-654 (C>T; HBB: c.316-197C>T). Under diagnosed ß-thalassemia (ß-thal) in her father, who carries Hb A'2 and a heterozygous ß0 codon 17 mutation, and the mother, who carries a heterozygous ß+ IVS II-654 mutation, was noted. Although Hb A'2 does not cause any problems, heterozygosity for Hb A'2 can lead to under diagnosis of ß-thal in Hb A'2 samples. This case highlights the importance of Hb A'2 in prenatal diagnosis (PND). Thus, molecular analysis for ß-thal mutations should be carried out when a small peak presents at the retention time (RT) of 4.71 min. on high performance liquid chromatography (HPLC) and the summation level of this peak and Hb A2 was equal or higher than 4.0%.


Assuntos
Hemoglobina A2/genética , Heterozigoto , Globinas beta/genética , Talassemia beta/diagnóstico , Talassemia beta/genética , Adulto , Cromatografia Líquida de Alta Pressão , Códon , Índices de Eritrócitos , Feminino , Genótipo , Hemoglobina A2/química , Hemoglobinas Anormais/química , Hemoglobinas Anormais/genética , Humanos , Lactente , Masculino , Mutação , Diagnóstico Pré-Natal , Globinas beta/química , Talassemia beta/sangue
5.
Indian J Hematol Blood Transfus ; 34(1): 110-114, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29398808

RESUMO

A misdiagnosis of ß-thalassemia carrier in samples with Hb Tak and HbD-Punjab, the ß-variants, can be a cause of inappropriate genetic counseling thus having a new case of ß-thalassemia major. A capillary electrophoresis (CE) is very efficient in separating and quantifying HbA2. In this study, HbA2 levels of samples which were doubted for compound heterozygous Hb Tak/ß-thalassemia or heterozygous HbD-Punjab/ß-thalassemia were measured and compared between CE and high performance liquid chromatography (HPLC). The molecular confirmation for Hb Tak, HbD-Punjab and ß-thalassemia codons 17 (A > T), 41/42 (-TCTT), 71/72 (+A) and IVSI-nt1 (G > T) mutations and 3.4 kb deletion were also performed. Based on DNA analysis, 3 cases were diagnosed as compound heterozygous Hb Tak/ß-thalassemia and one for HbD-Punjab/ß-thalassemia. The elevated HbA2 levels were found in all 4 samples with rages of 4.6-7.3% on CE while those were not found on HPLC. Thus, the elevated HbA2 measured by CE can be used as a screening parameter for differentiating the homozygote of Hb Tak and HbD-Punjab from the compound heterozygote of these hemoglobinopathies and ß-thalassemia.

6.
Hemoglobin ; 42(1): 54-57, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29484903

RESUMO

Hb Q-Thailand [α74(EF3)Asp→His (α1), GAC>CAC, HBA1: c.223G>C] is an abnormal hemoglobin (Hb) frequently found in Thailand and Southeast Asian countries. The association of the αQ-Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report how to diagnose the coinheritance of Hb Q-Thailand with ß-thalassemia (ß-thal)/Hb E disease in four Thai samples from high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) testing results. Understanding of the HPLC chromatogram and CE electropherogram patterns of this complex mutation is important for interpretation of testing results and providing genetic counseling.


Assuntos
Hemoglobina E/genética , Hemoglobinopatias/genética , Hemoglobinas Anormais/genética , Cromatografia Líquida de Alta Pressão , Eletroforese Capilar , Hemoglobinopatias/diagnóstico , Tailândia
7.
Asian J Transfus Sci ; 11(2): 199-202, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28970692

RESUMO

Hemoglobin (Hb) D. Punjab [ß121(GH4) Glu→Gln; HBB: C.364G>C] and ß0-thalassemia 3.4 kb deletion are very rare in the Thai population. For the first time, the coinheritance of HbD-Punjab with ß0-thalassemia 3.4 kb deletion was reported in a 7-year-old Thai girl. She had mild anemia (Hb 115.0 g/L and mean corpuscular hemoglobin 18.1 pg) with red blood cell microcytosis (mean corpuscular volume 52.5 fL). By capillary electrophoresis (CE), HbD-Punjab was found at a migration position of 180 s with the value of 81.9% while the level of HbA2 was 7.3%. Based on the elevated HbA2, the molecular analysis for detection of ß0-thalassemia mutations was performed. The 490 bp amplified fragments from ß0-thalassemia 3.4 kb deletion was observed. Thus, the coinheritance of HbD-Punjab with ß0-thalassemia can be found in the Thai population. The HbA2 measured on CE is a reliable parameter for differentiating the homozygote of HbD-Punjab and compound heterozygote of HbD-Punjab and ß0-thalassemia.

9.
Hemoglobin ; 41(2): 73-76, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28641501

RESUMO

We report the hematological parameters and provide a rapid molecular analysis method for detection of Hb Wiangpapao [α44(CE2)Pro→Ser, CCG>TCG; HBA1: c.133C>T], a new α-globin variant found in a pregnant Thai woman. Her red cell indices were measured by an automated blood counter. The results were: red blood cell (RBC) count 4.03 × 1012/L, Hb 13.1 (g/dL), packed cell volume (PCV) 0.39 L/L, mean corpuscular volume (MCV) 97.0 fL, mean corpuscular hemoglobin (Hb) (MCH) 32.5 pg, mean corpuscular Hb concentration (MCHC) 33.4 g/dL, and RBC distribution width (RDW) 9.4%. The Hb typing by high performance liquid chromatography (HPLC) showed 13.6% abnormal Hb at a retention time of 2.20 min. that was difficult to distinguish from Hb A. On the capillary electrophoresis (CE) electropherogram, this hemoglobinopathy peak did not separate from the Hb A peak. DNA sequencing showed a C>T transition at the first position of codon 44 (CCG>TCG) of the α1-globin gene that led to a substitution of proline for serine. This mutation has not been recorded in the public databases. Therefore, we named it Hb Wiangpapao as it was first discovered in the Wiangpapao District, Chiang Rai, Thailand. The multiplex allele-specific polymerase chain reaction (ASPCR) for detection of Hb Wiangpapao was developed and revealed a 510 bp specifically amplified fragment. The better understanding of hematological characterizations and the newly developed multiplex ASPCR for diagnosis of Hb Wiangpapao are useful for genetic counseling and family education.


Assuntos
Hemoglobinas Anormais/genética , Mutação , Complicações Hematológicas na Gravidez/genética , Feminino , Humanos , Gravidez , Tailândia
10.
Indian J Hematol Blood Transfus ; 32(4): 514-516, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27812269

RESUMO

Hemoglobin (Hb) New York [ß113 (G15) Val→Glu, GTG>GAG] is a very rare ß-chain variant found in Thailand. This variant is often missed by routine laboratory testing because Hb New York and Hb A have the identical retention time on high performance liquid chromatography. We reported here for the first time that the detection of Hb New York in a Thai woman by using capillary electrophoresis (CE). A peak of Hb New York located ahead of Hb A at the electrophoretic zone 11 with a level of 42.8 %. The DNA sequencing revealed the GTG>GAG mutation at codon 113 for Hb New York on one allele of ß-globin gene. Therefore, the CE has a high efficiency to prevent the misinterpretation of hemoglobin analysis in patients who are heterozygote of this variant.

11.
Indian J Hematol Blood Transfus ; 32(Suppl 1): 267-71, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27408410

RESUMO

The diagnosis of co-inheritance of Hb Hope [ß136(H14)Gly â†’ Asp, GGT > GAT] and Hb constant spring [Hb CS; α142, Term â†’ Gln (TAA > CAA IN α2)] by high performance liquid chromatography (HPLC) is difficult because Hb Hope has a HPLC elution pattern similar to that of Hb Pyrgos, Hb New York, Hb Kodaira, and Hb Phimai. Moreover, the Hb CS mRNA, as well as the gene product, are unstable and present at a low level in peripheral blood. We report the use of a capillary electrophoresis (CE) for diagnosis of co-inheritance of Hb Hope and Hb CS in 3 Thai females who had mild anemia with Hb and Hct varying from 91-114 g/L to 0.28-0.36 L/L, respectively. Hb Hope eluted with a retention time of 125-140 s (Zone 10) of CE electrophoregram. Furthermore, the peak of Hb CS at the retention time of 245-250 s (Zone 2) was observed in these samples. In addition, the manual analysis by taking the non-black area under both peaks of HbA and Hb Hope (inverted V) into account provided the corrected Hb CS levels which are useful in screening of heterozygote or homozygote for Hb CS. Thus, the CE method provides an accurate diagnosis of Hb Hope and Hb CS which is useful in genetic counseling, prevention and control programs for these hemoglobinopathies.

12.
Indian J Hematol Blood Transfus ; 32(Suppl 1): 311-4, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27408422

RESUMO

Hemoglobin (Hb) J-Buda [α61(E10)Lys â†’ Asn, AAG > AAT] is a very rare α-chain variant found in South-East Asia. We analyzed hematological parameters and provided a rapid molecular analysis method for detection of this hemoglobinopathy in two Thai women who had severe microcytic anemia with Hb and MCV <70 g/L and 80 fL, respectively. The HPLC revealed an abnormal Hb peak eluted ahead of HbA at retention time of 1.91-1.98 min. On CE, the abnormal Hb peak was observed at the electrophoretic zone 12 which corresponded to Hb Bart's. The DNA sequencing revealed the AAG â†’ AAT mutation at codon 61 for Hb J-Buda on one allele of the α1-globin gene. The developed Allele-specific PCR (ASPCR) showed the 455 bp amplified fragment from Hb J-Buda allele. Thus, understanding of hematological characterizations and the developed ASPCR for diagnosis of Hb J-Buda are essential for genetic counseling of this hemoglobinopathy.

14.
Hemoglobin ; 40(2): 134-7, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26864977

RESUMO

Hb Agenogi [ß90(F6)Glu→Lys (GAG>AAG) HBB: c.271G>A)] is a very rare ß-globin chain variant. We report for the first time this hemoglobinopathy in a pregnant 20-year-old Thai woman. She was seen by an obstetrician at her 14th week of gestation. She was pale and had an inflammatory lesion of her lower left leg. The hemoglobin (Hb) analysis by high performance liquid chromatography (HPLC) and low pressure liquid chromatography (LPLC) showed a peak of abnormal Hb at the C window. On capillary electrophoresis (CE), the abnormal Hb peak was observed at electrophoretic zone 4 that corresponded to the Hb E (HBB: c.79G>A) peak. Direct DNA sequencing revealed a GAG>AAG mutation at codon 90 of the ß-globin gene. Thus, even though Hb Agenogi is very rare, it can be found in Thai people. The knowledge and understanding of this hemoglobinopathy will be used to assist in diagnosis, management and counseling for patients.


Assuntos
Códon , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/genética , Hemoglobinas Anormais/genética , Mutação , Substituição de Aminoácidos , Cromatografia Líquida de Alta Pressão , Análise Mutacional de DNA , Feminino , Hemoglobinas Anormais/metabolismo , Humanos , Gravidez , Tailândia , Adulto Jovem
15.
Genet Test Mol Biomarkers ; 20(1): 37-43, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26544676

RESUMO

BACKGROUND: There are limited data on hemoglobin (Hb) variants among peoples of northern Thailand. Hence, we determined the prevalence of Hb variants among a large cohort from this region. METHODS: A study was done on 23,914 subjects recruited from eight provinces during June 2012-January 2014. Hb was analyzed by high performance liquid chromatography (HPLC) and capillary electrophoresis, and corresponding mutations were identified by polymerase chain reaction. RESULTS: Among 23,914 subjects examined, 211 (0.88%) were found to carry 14 different Hb variants. Five α-globin chain variants were identified: Hb Q-Thailand (n = 40; 19.0%), Hb Hekinan (n = 8, 3.8%), Hb Siam (n = 2, 0.9%), Hb Beijing (n = 1, 0.5%), and Hb Kawachi (n = 1, 0.5%), not previously described in the Thai population. Seven ß-globin variants, including Hb Hope, Hb Tak, Hb S, Hb J-Bangkok, Hb G-Makassar, Hb C, and Hb Korle-Bu, were found in 115 (54.5%), 30 (14.2%), 3 (1.4%), 3 (1.4%), 1 (0.5%), 1 (0.5%), and 1 (0.5%) subjects, respectively. The remaining five subjects (2.4%) were carriers of two different δ-globin chain variants. A different spectrum and frequencies of Hb variants were noted compared to other geographical areas. Haplotype analysis demonstrated multiple origins for Hbs Hope and Tak and confirmed a non-African origin of Hb C. Several genetic interactions between these variants with other hemoglobinopathies were encountered. Associated hematological phenotypes and novel Hb derivatives formed were presented. CONCLUSIONS: The prevalence and molecular heterogeneities of the Hb variants found in this large cohort of the northern Thai people's should prove useful in developing a screening program, and for the performance of additional population genetics studies of hemoglobinopathy in the region.


Assuntos
Hemoglobinas Anormais/genética , Talassemia/genética , Feminino , Humanos , Masculino , Prevalência , Tailândia/epidemiologia , Talassemia/epidemiologia
16.
Hemoglobin ; 39(4): 292-5, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26029792

RESUMO

We report the molecular and hematological feature of a Thai woman who had clinical diagnosis of ß-thalassemia intermedia (ß-TI). Hemoglobin (Hb) high performance liquid chromatography (HPLC) analysis identified Hb A (64.4%), Hb F (12.3%) and Hb A2/E (15.9%) with small peaks of Hb Bart's (γ4) and Hb H (ß4). She was initially diagnosed as EA Bart's disease, which occurs from combination of Hb H disease and Hb E (HBB: c.79G > A) trait. However, the Hb analysis using capillary electrophoresis (CE) demonstrated no Hb E, 68.5% Hb A, 15.5% Hb F and 16.0% Hb A2. DNA analysis showed a compound heterozygosity for (ß(+)) -31 (A > G) (HBB: c.-81A > G) and (ß(0)) codon 17 (A > T) (HBB: c.52A > T) mutations and deletional Hb H (- -(SEA)/-α(3.7)). Thus, she was finally diagnosed with a combination of Hb H disease and compound heterozygosity of ß(+)/ß(0)-thalassemia (ß(+)/ß(0)-thal). The ß-globin mutations could affect not only hematological parameters but also elevate the Hb A2 levels. These effects could not be ameliorated by the coinheritance of Hb H disease. Therefore, a better understanding of the effects of this combination on hematological analysis data will be useful for providing accurate diagnosis, genetic counseling, prevention and control programs of ß-thalassemia major (ß-TM).


Assuntos
Códon , Hemoglobina A2/genética , Hemoglobina A2/metabolismo , Heterozigoto , Mutação , alfa-Globinas/genética , Globinas beta/genética , Adolescente , Análise Mutacional de DNA , Índices de Eritrócitos , Feminino , Genótipo , Humanos , Pessoa de Meia-Idade , Talassemia beta/sangue , Talassemia beta/diagnóstico , Talassemia beta/genética
17.
Clin Chim Acta ; 438: 226-30, 2015 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-25218786

RESUMO

BACKGROUND: We reported molecular and hematological characteristics of δ-globin chain variants and addressed diagnostic consideration of complex hemoglobinopathies caused by their interactions with α- and ß-thalassemias. METHODS: Study was done on four unrelated Thai subjects with second Hb A2 fractions. Hb analysis was carried out using automated HPLC and capillary electrophoresis. Mutations were identified by DNA analysis. Novel diagnostic methods based on PCR-RFLP and allele specific PCR were developed. RESULTS: Hb analysis revealed Hb A2 variant in all cases. DNA analysis of δ-globin gene identified the Hb A2-Melbourne [δ43(CD2)Glu→Lys] in combination with α(+)-thalassemia, α(0)-thalassemia and ß(0)-thalassemia in the first three cases, respectively. Analysis of the remaining case identified a novel δ-Hb variant namely the Hb A2-Lampang [δ47(CD6)GAT→AAT; Asp→Asn] found in association with Hb E and α(+)-thalassemia. These mutations could be identified using PCR-RFLP and allele specific PCR assays developed. CONCLUSIONS: It is necessary to recognize the Hb A2 variant and to combine the amounts of Hb A2 and Hb A2-variant for a total Hb A2 value to make better diagnostic of these complex syndromes. Co-inheritance of these multiple globin gene defects could lead to complex hemoglobinopathies requiring comprehensive Hb and molecular assessments.


Assuntos
Hemoglobina A2/genética , Hemoglobinas Anormais/genética , Programas de Rastreamento , Mutação/genética , Talassemia beta/diagnóstico , Talassemia beta/genética , Adulto , Análise Mutacional de DNA , Feminino , Hemoglobinúria/genética , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Tailândia
18.
Clin Lab ; 60(7): 1099-103, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25134377

RESUMO

BACKGROUND: There have been no reports for the frequency of Hb Q-Thailand [alpha 74(EF3)Asp --> His, GAC > CAC] and its combinations either with other forms of thalassemia or hemoglobinopathies in Northern Thailand. The aims of this study were to search for Hb Q-Thailand and its combinations in Northern Thai population and to analyze fractions of hemoglobin in Hb Q-Thailand and its combinations on high performance liquid chromatography (HPLC) chromatograms and/or capillary electrophoresis (CE) electrophoregrams. METHODS: Blood samples from public and private hospitals in 7 northern provinces of Thailand were analyzed for thalassemia and hemoglobinopathy diagnoses using HPLC and/or CE and DNA analysis techniques at the Thalassemia Laboratory, Associated Medical Sciences Clinical Service Center, Chiang Mai, Thailand. RESULTS: Hb Q-Thailand was found in 13 of 13,596 (0.10%) samples; 6 were heterozygous Hb Q-Thailand, 4 were compound Hb Q-Thailand/alpha-thalassemia-1 Southeast Asian (SEA) type deletion and 3 with combinations of Hb Q-Thailand/beta(0)-thalassemia, Hb Q-Thailand/Hb E and Hb Q-Thailand/Hb E/alpha-thalassemia-1 SEA type deletion. The fractions of hemoglobin on HPLC chromatograms and CE electrophoregrams were observed based on types of combinations. CONCLUSIONS: Hb Q-Thailand and its combinations could be found in northern Thai population with the frequency of 0.10%. Thus, the better understanding of HPLC chromatogram and/or CE electrophoregram patterns of Hb Q-Thailand and its combination is essential for diagnosis and genetic counseling of thalassemia and hemoglobinopathies in this area.


Assuntos
Hemoglobinopatias/epidemiologia , Hemoglobinas Anormais/metabolismo , Talassemia/epidemiologia , Cromatografia Líquida de Alta Pressão , Eletroforese Capilar , Hemoglobinopatias/sangue , Humanos , Tailândia/epidemiologia , Talassemia/sangue
19.
Clin Chem Lab Med ; 50(9): 1625-9, 2012 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-22962223

RESUMO

BACKGROUND: Hemoglobin (Hb) A(2) is artifactually elevated in cases of heterozygous Hb Hope when measured by capillary electrophoresis (CE). However, there is no report of HbA(2) levels and capillary electrophoregrams for associations of heterozygote of Hb Hope with α-thalassemia nor ß-thalassemia. METHODS: Levels of HbA(0), HbA(2) and Hb Hope in 16 heterozygous Hb Hope, 3 Hb Hope/α-thalassemia-1 SEA type deletion and 2 Hb Hope/ß(0)-thalassemia were measured by CE. Electrophoregram and the levels of those were compared within these three groups. RESULTS: Artifactually elevated HbA(2) levels (≥4%) were found in both groups of heterozygous Hb Hope and Hb Hope/α-thalassemia-1 SEA type deletion. Manual corrections were performed by adjusting baselines, and results showed that means of HbA(2) in both groups decreased from 4.47% and 4.03% to 1.93% and 1.77%, respectively. The highest levels of HbA(2) and Hb Hope were observed in samples with Hb Hope/ß(0)-thalassemia. Moreover, HbA(0) was not observed in these cases. CONCLUSIONS: The elevation of HbA(2) in patients with heterozygous Hb Hope and with Hb Hope/α-thalassemia-1 SEA type deletion measured by CE leads to incorrect ß-thalassemia trait diagnosis. However, using CE electrophoregram together with levels of HbA(0), HbA(2) and Hb Hope would be a more accurate and precise method for diagnosis of Hb Hope/ß(0)-thalassemia.


Assuntos
Eletroforese Capilar , Hemoglobinas Anormais/química , Talassemia alfa/genética , Talassemia beta/genética , Alelos , Deleção de Genes , Hemoglobina A/química , Hemoglobina A2/química , Hemoglobinas Anormais/genética , Heterozigoto , Humanos , Talassemia alfa/metabolismo , Talassemia beta/metabolismo
20.
Hemoglobin ; 36(5): 491-6, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22881835

RESUMO

The incidence of Hb Paksé (codon 142, TAA>TAT, α2) might have been underestimated due to misidentifying some cases as Hb Constant Spring (Hb CS, codon 142, TAA>CAA, α2) since both abnormal hemoglobins (Hbs) migrate to the same position on Hb electrophoresis or chromatography. Multiplex asymmetric allele-specific polymerase chain reaction (PCR) for identification of Hb CS and Hb Paksé, and a real-time PCR (ReTi-PCR) with SYBR Green1 high resolution melting (HRM) analysis, for detection of the α-thalassemia-1 (α-thal-1) Southeast Asian (- -(SEA)/) type deletion, were performed on 114 blood samples collected from subjects who lived in northern Thailand. These samples were previously identified as carrying Hb CS by capillary electrophoresis (CE) or high performance liquid chromatography (HPLC). Five out of 114 (4.4%) samples were found to carry Hb Paksé with four different genotypes including Hb Paksé trait, compound Hb CS/Hb Paksé, Hb H-Hb Paksé disease and Hb H-Hb Paksé-Hb E disease. These results suggested that Hb Paksé and its various combinations can be misidentified as Hb CS. Although the clinical symptoms of Hb Paksé and Hb CS are similar, to prevent erroneous epidemiological data on Hb CS as well as underestimating the prevalence of Hb Paksé in northern Thailand, DNA analysis is recommended to be performed in all cases when peaks of Hb CS/Hb Paksé are detected on CE or HPLC.


Assuntos
Códon , Hemoglobinas Anormais/genética , Mutação , alfa-Globinas/genética , Talassemia alfa/genética , Alelos , Genótipo , Humanos , Tailândia , Talassemia alfa/epidemiologia
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