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1.
Niger Postgrad Med J ; 27(3): 190-195, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32687118

RESUMO

Background: Haemoglobin (Hb) disorders are among the most common blood genetic disorders worldwide, and they constitute an important cause of morbidity and mortality, especially in Nigeria. Despite the clinical significance of early diagnosis, newborn screening for these conditions is not routinely done in Nigeria. Objective: This study was undertaken to document the pattern of Hb phenotypes of newborn babies at the National Hospital Abuja and highlight the relevance of neonatal screening for early diagnosis of abnormal Hb phenotypes in Nigeria. Subjects and Methods: A prospective study of eligible newborn babies delivered in the hospital at the study site was undertaken following parental informed consent. Venous blood was collected from the babies into an ethylenediaminetetraacetic acid sample bottles. The samples were analysed using high-performance liquid chromatography (HPLC) techniques, and the Hb phenotypes obtained were documented. Data were analysed using the Statistical Package for Social Sciences (SPSS) version 20 (IBM-SPSS, Armonk, NY, USA). Results: Three hundred and eleven newborns (male = 173, female = 138) aged 0-28 days were recruited. Two hundred and thirty-six (75.9%) babies had Hb AA (FA) phenotype, 63 (20.3%) Hb AS (FAS), 6 (1.9%) Hb SS (FS), 4 (1.3%) Hb AC (FAC) and 2 (0.6%) had abnormal HbA variants. The overall prevalence of abnormal Hb phenotype was 24.1%. The results showed a significant association of sex (P = 0.003) and ethnicity (P = 0.047) with Hb phenotype. Conclusion: There is a wide spectrum of abnormal Hb phenotypes in Nigeria, and these phenotypes can easily be detected at birth using HPLC. We, therefore, recommend routine neonatal screening for sickle cell disease by HPLC in Nigeria.


Assuntos
Anemia Falciforme/sangue , Cromatografia Líquida de Alta Pressão/métodos , Hemoglobinas Anormais/análise , Hemoglobinas/análise , Recém-Nascido/sangue , Traço Falciforme/sangue , Adolescente , Adulto , Grupo com Ancestrais do Continente Africano , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Criança , Pré-Escolar , Hemoglobina Falciforme , Hemoglobinas/classificação , Hemoglobinas Anormais/genética , Humanos , Lactente , Nigéria/epidemiologia , Fenótipo , Prevalência , Estudos Prospectivos , Adulto Jovem
2.
Gene ; 741: 144544, 2020 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-32165295

RESUMO

The Maldives is an archipelago of 407,660 people according to population census of 2014, made up of 20 atolls, which has one of the highest prevalence of ß-thalassemia worldwide. However, there is a dearth of studies related to ß-thalassemia in the Maldives; therefore, in this study, we aimed to investigate the genetic epidemiology of ß-thalassemia in Maldives. Blood samples were collected from 110,504 participants (1992-2015). Hemoglobin and RBC indices were measured on automated hematology analyzers. The quantitation of hemoglobin, HbA2, Hb F, and other abnormal Hb variants were assessed by HPLC. Molecular analysis was performed for the most common mutations in Southeast Asia for only 874 individuals either heterozygous or homozygous for these mutations using reverse dot blot hybridization. We screened 110,504 individuals for ß-thalassemia between 1992 and 2015, which is ~ 30% of the entire population. The ß-thalassemia carrier frequency was estimated to be 16.2%. Molecular diagnosis of 874 ß-thalassemia carriers/major was performed for the most common seven mutations in Southeast Asia; of these, 139 patients were diagnosed as ß-thalassemia major. This analysis showed that the most common mutations were IVS1 + 5G > C, (678; 77.6%), followed by the CD 30 (136; 15.6%). The least frequent mutation was FS8/9, (1, 0.001%), followed by IVS1 + 1G > T and CD15 (2; 0.2%). The frequency of ß-thalassemia varies significantly among the 20 different atolls in Maldives. This study is expected to improve genetic counseling, creating awareness, enhance premarital screening, and customize the prevention and treatment strategies based on the needs of each atoll.


Assuntos
Aconselhamento Genético , Epidemiologia Molecular , Globinas beta/genética , Talassemia beta/genética , Feminino , Genótipo , Hemoglobinas Anormais/genética , Heterozigoto , Humanos , Ilhas do Oceano Índico , Masculino , Programas de Rastreamento/métodos , Mutação , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia
3.
BMC Med Genet ; 21(1): 43, 2020 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-32111191

RESUMO

BACKGROUND: Individuals with δß-thalassemia/HPFH and ß-thalassemia usually present with intermedia or thalassemia major. No large-scale survey on HPFH/δß-thalassemia in southern China has been reported to date. The purpose of this study was to examine the molecular epidemiology and hematologic characteristics of these disorders in Guangzhou, the largest city in Southern China, to offer advice for thalassemia screening programs and genetic counseling. METHODS: A total of 125,661 couples participated in pregestational thalassemia screening. 654 subjects with fetal hemoglobin (HbF) level ≥ 5% were selected for further investigation. Gap-PCR combined with Multiplex ligation dependent probe amplification (MLPA) was used to screen for ß-globin gene cluster deletions. Gene sequencing for the promoter region of HBG1 /HBG2 gene was performed for all those subjects. RESULTS: A total of 654 individuals had hemoglobin (HbF) levels≥5, and 0.12% of the couples were found to be heterozygous for HPFH/δß-thalassemia, including Chinese Gγ (Aγδß)0-thal, Southeast Asia HPFH (SEA-HPFH), Taiwanese deletion and Hb Lepore-Boston-Washington. The highest prevalence was observed in the Huadu district and the lowest in the Nansha district. Three cases were identified as carrying ß-globin gene cluster deletions, which had not been previously reported. Two at-risk couples (0.0015%) were required to receive prenatal diagnosis. We also found 55cases of nondeletional-HPFH (nd-HPFH), including 54 with Italian nd-HPFH and one with the Aγ-197C-T heterozygous state. It is difficult to discriminate between Chinese Gγ (Aγδß)0-thal and Italian nd-HPFH carriers using hemoglobin (Hb) analysis. CONCLUSIONS: This study is the first to describe the familial prevalence of HPFH/δß-thalassemia and the high-risk rate in Greater Guangzhou Area, and the findings will support the implementation of thalassemia screening for three common deletions by gap-PCR. We also presented a systematic description of genotype-phenotype relationships which will be useful for genetic counseling and prenatal diagnostic services for ß-thalassemia intermedia.


Assuntos
Hemoglobina Fetal/genética , Talassemia beta/epidemiologia , Talassemia beta/genética , Talassemia delta/epidemiologia , Talassemia delta/genética , Adulto , Grupo com Ancestrais do Continente Asiático/genética , China/epidemiologia , Cidades/epidemiologia , Família , Feminino , Hemoglobinas Anormais/genética , Humanos , Masculino , Pessoa de Meia-Idade , Epidemiologia Molecular , Prevalência , Adulto Jovem , Globinas beta/genética , Talassemia beta/sangue , Talassemia delta/sangue
5.
Ann Biol Clin (Paris) ; 78(1): 61-69, 2020 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-32108581

RESUMO

Hemoglobin D-Punjab is a common hemoglobin variant in India but very rare in Morocco. Often, its presence has minimal or no clinical impact. Its heterozygous association with ß-thalassemia is exceptional. The purpose of the study is to describe the epidemiological, diagnostic and prophylactic aspects of hemoglobinosis D-Punjab from a family case study. MATERIAL AND METHODS: Case study of hemoglobinosis D-Punjab in a Moroccan family, diagnosed at the Laboratory of Biochemistry-Toxicology of the Mohammed V Military Teaching Hospital. The biological study was based on iron and hemolysis checkups, hemogram and study of hemoglobin (electrophoresis in alkaline and acid medium, high performance liquid chromatography). The index patient also benefited from sequencing by molecular biology. RESULTS: The index patient was heterozygous D-Punjab/ß0-thalassemia, confirmed by molecular biology. Two of her sisters had the same hemoglobin profile. At electrophoresis, all three had hemoglobin D-Punjab higher than 90%, hemoglobin A less than 1% and hemoglobin A2 higher than 6%. The results of the three hemograms showed similar abnormalities (pseudo-polycythemia, hypochromia, microcytosis, anisopoikilocytosis). Six other members of the family had a thalassemic trait and another three had heterozygous hemoglobinosis D-Punjab. CONCLUSION: Hemoglobin D-Punjab remains extremely rare in Morocco and very poorly documented in the literature. The number of reported cases is expected to raise due to increasing migration. Biologist advisory services require a precise diagnosis in order to give correct genetic counseling.


Assuntos
Hemoglobinas Anormais/genética , Talassemia beta/genética , Adolescente , Adulto , Criança , Família , Feminino , Estudos de Associação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos , Linhagem , Talassemia beta/sangue
7.
Am J Obstet Gynecol ; 222(2): 185.e1-185.e17, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31394068

RESUMO

BACKGROUND: Thalassemia is one of the most common monogenetic diseases in the south of China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a homozygous Southeast Asian deletion (-/-) in the HBA gene. Few studies have proved the potential of screen for Bart's hydrops fetalis using fetal cell-free DNA. However, the number of cases is still relatively small. Clinical trials of large samples would be needed. OBJECTIVE: In this study, we aimed to develop a noninvasive method of target-captured sequencing and genotyping by the Bayesian method using cell-free fetal DNA to identify the fetal genotype in pregnant women who are at risk of having hemoglobin Bart hydrops fetalis in a large-scale study. STUDY DESIGN: In total, 192,173 couples from 30 hospitals were enrolled in our study and 878 couples were recruited, among whom both the pregnant women and their husbands were detected to be carriers of Southeast Asian type (-/αα) of α-thalassemia. Prenatal diagnosis was performed by chorionic villus sampling, amniocentesis, or cordocentesis using gap-polymerase chain reaction considered as the golden standard. RESULTS: As a result, we found that the sensitivity and specificity of our noninvasive method were 98.81% and 94.72%, respectively, in the training set as well as 100% and 99.31%, respectively, in the testing set. Moreover, our method could identify all of 885 maternal samples with the Southeast Asian carrier and 36 trisomy samples with 100% of sensitivity in T13, T18, and T21 and 99.89% (1 of 917) and 99.88% (1 of 888) of specificity in T18 and T21, respectively. CONCLUSION: Our method opens the possibility of early screening for maternal genotyping of α-thalassemia, fetal aneuploidies in chromosomes 13/18/21, and hemoglobin Bart hydrops fetalis detection in 1 tube of maternal plasma.


Assuntos
Hemoglobinas Anormais/genética , Hidropisia Fetal/diagnóstico , Amniocentese , Teorema de Bayes , Ácidos Nucleicos Livres , Amostra da Vilosidade Coriônica , Cordocentese , Síndrome de Down/diagnóstico , Feminino , Genótipo , Heterozigoto , Humanos , Hidropisia Fetal/genética , Teste Pré-Natal não Invasivo , Gravidez , Sensibilidade e Especificidade , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Talassemia alfa/diagnóstico , Talassemia alfa/genética
9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(11): 1130-1132, 2019 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-31703143

RESUMO

OBJECTIVE: To analyze the hematological characteristics of a patient with Hb Ottawa in conjunction with ß -thalassemia. METHODS: Peripheral blood samples from the proband and her parents were collected and subjected to red blood cell analysis and hemoglobin electrophoresis. Genotypes of α - and ß -globin genes were also analyzed. RESULTS: The proband and her mother were both heterozygotes for Hb Ottawa and ß -thalassemia variant IVS II-654, and presented with typical ß -thalassemia trait featuring hypochromic microcytic anemia. An abnormal hemoglobin band was detected upon electrophoresis. CONCLUSION: Co-existence of Hb Ottawa and ß -thalassemia may not aggravate the phenotype.


Assuntos
Hemoglobinas Anormais/genética , Talassemia beta/genética , Feminino , Testes Genéticos , Heterozigoto , Humanos , alfa-Globinas/genética , Globinas beta/genética
10.
Hemoglobin ; 43(4-5): 241-244, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31690131

RESUMO

Although mutations causing α-thalassemia (α-thal) are mainly larger deletions involving one or both of the duplicated α-globin genes, point mutations are not rare. We have identified a novel mutation of the translation initiation codon of the α2-globin gene with DNA sequencing and allele-specific multiplex ligation-dependent probe amplification (MLPA) in a Chinese family. RNA analysis was performed with reverse transcription-MLPA (RT-MLPA). A novel mutation at the translation initiation codon of the α2-globin gene (HBA2: c.3G>C) was identified. The proband and his father, who were both carriers of this mutation, had a hematological phenotype of mild α+-thalassemia (α+-thal) trait with low-normal limit of mean corpuscular volume (MCV) and normal Hb A2. RNA analysis showed markedly decreased levels of α-globin mRNA and the presence of a small amount of mutant mRNA. The HBA2: c.3G>C mutation most likely caused α-thal by lowering levels of wild α-globin chain. Our study increases the mutation spectrum of α-thal.


Assuntos
Códon de Iniciação/genética , Mutação Puntual , alfa-Globinas/genética , Talassemia alfa/genética , Grupo com Ancestrais do Continente Asiático , Sequência de Bases , Índices de Eritrócitos , Família , Feminino , Hemoglobina A2/genética , Hemoglobinas Anormais/genética , Humanos , Masculino , Fenótipo
11.
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.


Assuntos
Eletroforese Capilar/métodos , Hemoglobina A2/genética , Hemoglobina H/genética , Hemoglobinas Anormais/genética , Deleção de Sequência , Feminino , Genótipo , Humanos , Hidropisia Fetal/diagnóstico , Gravidez , Diagnóstico Pré-Natal/métodos , Talassemia alfa/diagnóstico , Talassemia alfa/genética
12.
Hemoglobin ; 43(4-5): 273-276, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31657650

RESUMO

High oxygen affinity hemoglobins (Hbs), characterized by a decreased ability to release oxygen to the tissues and a left-shifted oxygen dissociation curve, are a rare cause of secondary erythrocytosis. Here, we report a base substitution in the ß-globin gene at codon 89 (AGT>AGG) in a kindred with familial erythrocytosis resulting in Hb Vanderbilt, a high oxygen affinity variant.


Assuntos
Substituição de Aminoácidos , Hemoglobinas Anormais/genética , Globinas beta/genética , Arginina , Humanos , Oxigênio/metabolismo , Policitemia/congênito , Policitemia/genética , Serina
13.
Hemoglobin ; 43(4-5): 286-288, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31650882

RESUMO

Here we report a 67-year-old Chinese male carrying an unstable novel hemoglobin (Hb) variant in compound heterozygosity with the - -SEA (Southeast Asian) α-thalassemia (α-thal) deletion. Hemoglobin analysis by capillary electrophoresis (CE) revealed a rapid degradation feature of the variant. Sanger sequencing of the Hb gene revealed a novel homozygous mutation in exon 2 of the α1-globin gene [α52(E1)Ser→Cys (TCT>TGT); HBA1: c.158C>G]. We named this novel variant Hb Dongguan for the place of origin of the proband. Additionally, gap-polymerase chain reaction (gap-PCR) indicated the presence of the heterozygous - -SEA α-thal deletion.


Assuntos
Hemoglobinas Anormais/genética , Heterozigoto , alfa-Globinas/genética , Talassemia alfa/genética , Idoso , Grupo com Ancestrais do Continente Asiático , Eletroforese Capilar , Homozigoto , Humanos , Masculino , Mutação , Estabilidade Proteica , Deleção de Sequência
14.
Hemoglobin ; 43(4-5): 236-240, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31635494

RESUMO

The α0-thalassemia (α0-thal) [- -SEA (Southeast Asian) deletion] is highly prevalent in Southeast Asia and South China. The linkage between the single nucleotide polymorphism (SNP) rs77308790 and the - -SEA deletion was reported in the Chinese population. This study reported the genotype of SNP rs77308790 using the high resolution melting (HRM) curve analysis in the Thai population and the application for double-checking diagnosis of Hb Bart's (γ4) hydrops fetalis syndrome. A total of 202 samples, including α0-thal carriers (- -SEA/αα) (n = 99) and wild-type (n = 103), was recruited. Minor allele frequency (MAF) of SNP rs77308790 (T allele) represented a significant difference (p<0.001) between carrier (- -SEA deletion) (MAF 0.455) and wild-type (MAF 0.039). The T allele of SNP rs77308790 showed a strong linkage with the - -SEA deletion allele [correlation coefficient between pairs of loci (D' = 1)] based on constructed random samples (CRSs) in Thais. Moreover, worldwide populations, based on the 1000Genomes database, also found the T allele to be less than 1.0%. For providing a double-checked diagnosis, two SNP (rs3760053, rs77308790) genotypes showed 100.0% concordance with a conventional gap-polymerase chain reaction (gap-PCR) method in nine families at-risk for Hb Bart's hydrops fetalis. The double-checked diagnosis based on the two SNPs (rs3760053, rs77308790) is suitable for implementation in routine diagnosis of Hb Bart's hydrops fetalis syndrome. Furthermore, our HRM analysis system can be amplified with a small amount of fetal DNA and could avoid allele dropouts.


Assuntos
Ligação Genética , Hidropisia Fetal/diagnóstico , Polimorfismo de Nucleotídeo Único , Diagnóstico Pré-Natal/métodos , Deleção de Sequência , Talassemia alfa/genética , Alelos , Família , Feminino , Hemoglobinas Anormais/genética , Humanos , Masculino , Gravidez , Tailândia
15.
Ann Hematol ; 98(12): 2661-2671, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31495903

RESUMO

Haemoglobin (Hb) H-constant spring (CS) alpha thalassaemia (- -/-αCS) is the most common type of nondeletional Hb H disease in southern China. The CRISPR/Cas9-based gene correction of patient-specific induced pluripotent stem cells (iPSCs) and cell transplantation now represent a therapeutic solution for this genetic disease. We designed primers for the target sites using CRISPR/Cas9 to specifically edit the HBA2 gene with an Hb-CS mutation. After applying a correction-specific PCR assay to purify the corrected clones followed by sequencing to confirm the mutation correction, we verified that the purified clones retained full pluripotency and exhibited a normal karyotype. This strategy may be promising in the future, although it is far from representing a solution for the treatment of HbH-CS thalassemia now.


Assuntos
Sistemas CRISPR-Cas , Edição de Genes , Hemoglobinas Anormais , Células-Tronco Pluripotentes Induzidas/metabolismo , Talassemia alfa , Hemoglobinas Anormais/genética , Hemoglobinas Anormais/metabolismo , Humanos , Células-Tronco Pluripotentes Induzidas/patologia , Talassemia alfa/genética , Talassemia alfa/metabolismo , Talassemia alfa/terapia
16.
Clin Biochem ; 74: 80-85, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31493379

RESUMO

Hb variants are structurally abnormal haemoglobins which can originate a wide range of phenotypes from clinically silent conditions to very severe disorders. In many cases, diagnosis is very difficult due to the instability of Hb mutants or the occurrence of misleading symptoms, such as cyanosis or hypoxia. Here we report the case of a young female with undiagnosed chronic haemolytic anaemia and low oxygen saturation in the absence of respiratory distress. High performance liquid chromatography showed the occurrence of an abnormal peak in the HbA2 region, which disappeared few days after blood sampling. Genetic analysis of both α genes revealed the -α3.7 deletion in heterozygous state and a novel mutation c.130 T > C leading to the substitution of Phenylalanine at codon 43 with Leucine in the α1 gene. This substitution originated a new Hb variant, named Hb Vanvitelli, with a molecular mass of 15,092.2 ±â€¯0.4 Da. Biochemical and laboratory tests described a hyper unstable Hb variant with altered oxygen affinity that was clinically significant only when co-inherited with genetic defects affecting the α2 locus. This case highlights the genetic complexity and diagnostic pitfalls of Hb variants, defined "experiments of nature" which can generate severe clinical conditions.


Assuntos
Anemia Hemolítica/diagnóstico , Anemia Hemolítica/genética , Hemoglobinas Anormais/genética , Deleção de Sequência , alfa-Globinas/genética , Adolescente , Sequência de Aminoácidos/genética , Substituição de Aminoácidos/genética , Anemia Hemolítica/sangue , Cromatografia Líquida , Doença Crônica , Códon/genética , Feminino , Testes Genéticos , Heterozigoto , Humanos , Itália , Espectrometria de Massas , Oximetria , Oxigênio/sangue , Linhagem , Fenótipo
17.
Hemoglobin ; 43(4-5): 277-279, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31530045

RESUMO

We report a de novo heterozygous variant of the ß-globin chain that showing a mild ß-thalassemia intermedia (ß-TI) phenotype. He presented with mild anemia, splenomegaly, reticulocytosis, and poikilocytosis and tear drop cells on the blood smear; Immune mediated hemolysis, red cell membrane and enzyme defects, were excluded; hemoglobin (Hb) electrophoresis showed an elevation of Hb F. Molecular analysis of the ß-globin gene showed a heterozygous variation in exon 3 (HBB: c.379delG, p.Val127Cysfs*32) in the absence of an α-globin gene mutation or mutations that modulate Hb F expression.


Assuntos
Mutação , Globinas beta/genética , Talassemia beta/genética , Criança , Hemoglobina Fetal/análise , Hemoglobinas Anormais/genética , Heterozigoto , Humanos , Masculino , Fenótipo , Turquia
18.
Hemoglobin ; 43(3): 193-197, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31414933

RESUMO

Dural venous sinus thrombosis (DVST) is a rare disease associated with hypercoagulable states. Patients with sickle cell disease are known to be prothrombotic. We report a case of DVST presenting with anterior neck and facial pain in a 24-year-old female with sickle cell disease, found to have extensive thrombotic disease involving the internal jugular vein. A literature review of DVST in sickle cell disease consisting of 14 case reports was summarized. Headache was a presenting feature in two-thirds of patients. Nine cases were associated with vaso-occlusive crisis (VOC), transfusion, or acute respiratory illness. Most patients were treated with anticoagulation therapy. Over three-quarters either died or suffered from a serious neurological complication, including stroke, seizure, coma, or elevated intracranial pressure. Given its association with life-threatening complications, DVST should be considered when patients with sickle cell disease present with a VOC, especially in the context of headache or neurological deficits.


Assuntos
Anemia Falciforme/complicações , Trombose dos Seios Intracranianos/diagnóstico , Trombose dos Seios Intracranianos/etiologia , Síndrome Torácica Aguda/etiologia , Anemia Falciforme/sangue , Anemia Falciforme/diagnóstico , Angiografia por Tomografia Computadorizada , Índices de Eritrócitos , Feminino , Hemoglobinas Anormais/genética , Humanos , Adulto Jovem
19.
Pediatr Hematol Oncol ; 36(6): 394-398, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31424305

RESUMO

Hemoglobin Köln, is the most common unstable hemoglobin variant worldwide, yet has only rarely been reported in Indians. Herein we report a case of coinheritance of Hb Köln and Hb E, which to the best of our knowledge has not been reported in the literature so far. The patient presented with mild symptoms of hemolysis with no previous history of blood transfusions.


Assuntos
Hemoglobina E/genética , Hemoglobinas Anormais/genética , Pré-Escolar , Humanos , Índia , Masculino
20.
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.


Assuntos
Alelos , Genótipo , Hemoglobina E/genética , Hemoglobinas Anormais/genética , Padrões de Herança , Mutação , Biomarcadores , Análise Mutacional de DNA , Índices de Eritrócitos , Feminino , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/genética , Humanos , Laos , Reação em Cadeia da Polimerase , Gravidez
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