RESUMO
Although not regularly transfused, patients with non-transfusion-dependent thalassemia (NTDT) are prone to iron overload and its complications. Their molecular, phenotypical and laboratory characteristics vary in different populations and there is a need to document local prevailing patterns. We have reviewed the records of our patients with NTDT in Kuwait and documented their clinical and molecular characteristics in addition to iron status [serum ferritin and liver magnetic resonance imaging (MRI) T2*], management and complications. There were 41 patients, made up of 20 with ß-thalassemia intermedia (ß-TI), 18 with Hb H (ß4) disease and three with Hb E (HBB: c.79G > A)-ß-thalassemia (Hb E-ß-thal); their ages ranged from 3 to 36 years (mean 12.5 ± 7.7). While 18 (43.9%) had been transfused at least once, only three (7.3%) had been transfused on multiple occasions. Three patients had serum ferritin >500 ng/mL; while four of 38 had mild or moderate liver iron overload. Seven (35.0%) of the ß-TI patients were managed with hydroxyurea (HU) with good response. Other complications included five patients with gallstones and one each of hypothyroidism and moyamoya. The most common mutations among the ß-TI patients were IVS-II-1 (G > A) and IVS-I-6 (T > C), while among the Hb H patients, the Saudi α2-globin gene polyadenylation (polyA) (AATAAA > AATAAG) mutation was responsible for all cases either as homozygotes (61.1%) or compound heterozygotes with the α-thal-2 (-α(3.7)) allele (33.3%). Although the pattern of NTDT in Kuwaiti patients is generally mild, there is a need to follow them to adulthood as the complications are cumulative and more prevalent in this group.
Assuntos
Talassemia/sangue , Talassemia/genética , Adolescente , Adulto , Criança , Pré-Escolar , Índices de Eritrócitos , Feminino , Hemoglobina Fetal/genética , Hemoglobina Fetal/metabolismo , Hemoglobina E/genética , Hemoglobina E/metabolismo , Hemoglobina H/genética , Hemoglobina H/metabolismo , Humanos , Kuweit , Masculino , Mutação , Talassemia/diagnóstico , Adulto Jovem , alfa-Globinas/genética , alfa-Globinas/metabolismo , Globinas beta/genética , Globinas beta/metabolismoRESUMO
INTRODUCTION: Patients with thalassemia major often present with a hypercoagulable state, the pathogenesis of which is still not understood. MATERIALS AND METHODS: This study evaluates the risk factors for hypercoagulability in 50 beta-thalassemia major patients and 50 healthy controls. Fasting total homocysteine, protein C (PC), protein S (PS), antithrombin (AT), activated protein C resistance (APCR) and lupus anticoagulant (LA) were assessed. MTHFR C677T mutation was determined. RESULTS: Significant reductions in PC, PS and AT were noted in patients. Only 4% of the patients had hyperhomocysteinemia. Thirty-two percent of the patients were heterozygous and 4% were homozygous for MTHFR C677T mutation. CONCLUSION: The natural coagulation inhibitors PC, PS and AT were significantly reduced in patients with beta-thalassemia major and were thus important risk factors for the hypercoagulable state, but hyperhomocysteinemia and MTHFR mutation do not seem to be significant risk factors for thromboembolic events.
Assuntos
Transtornos da Coagulação Sanguínea/sangue , Transtornos da Coagulação Sanguínea/etiologia , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Mutação Puntual , Talassemia beta/sangue , Talassemia beta/genética , Resistência à Proteína C Ativada/sangue , Adolescente , Adulto , Antitrombinas/metabolismo , Sequência de Bases , Transtornos da Coagulação Sanguínea/genética , Estudos de Casos e Controles , Primers do DNA/genética , Feminino , Heterozigoto , Homocisteína/sangue , Homozigoto , Humanos , Kuweit , Inibidor de Coagulação do Lúpus/sangue , Masculino , Proteína C/metabolismo , Proteína S/metabolismo , Fatores de Risco , Tromboembolia/sangue , Tromboembolia/etiologia , Tromboembolia/genética , Adulto Jovem , Talassemia beta/complicaçõesRESUMO
OBJECTIVES: This study aimed at determining the effects of cigarette smoking based on gender, on several hematological parameters and von Willebrand factor protein in the asymptomatic Arab population of Kuwait. SUBJECTS AND METHODS: Ninety-two subjects participated in this study: 55 males (31 smokers and 24 nonsmokers) and 37 females (18 smokers and 19 nonsmokers). Complete blood count results were obtained using Beckman Coulter Hematology Analyzer. Von Willebrand factor functional activity was determined using an enzyme-linked immunoassay-based test in which anti-von Willebrand factor IgG monoclonal antibody was used that recognizes a functional epitope of the protein. The coagulation profile was obtained using ACL 9000 coagulation analyzer. RESULTS: Male smokers had significantly higher levels of white blood cell count (p = 0.03) and von Willebrand factor protein levels (p = 0.029), and a significantly shorter thrombin time (p = 0.019) than nonsmokers. Smoking did not appear to affect any of the parameters analyzed in females as no significant difference was found between smokers and nonsmokers (p > 0.05). CONCLUSION: Our results showed that smoking affected white blood cell count and von Willebrand factor levels in males and not in females, and as such could be potential markers for smoking-induced endothelial damage in asymptomatic Arab male smokers.
