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1.
Arch Iran Med ; 14(1): 8-11, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21194254

RESUMO

BACKGROUND: Co-inheritance of ß- and δ-globin mutations in Iran is not uncommon. This situation may interfere with correct diagnosis and genetic counseling of α- and ß-thalassemia in screening programs. Here we report the co-inheritance of ß- and δ-globin gene mutations in an individual with microcytosis, hypochromia and a normal hemoglobin A2 (HbA2) level. METHODS: Genomic DNA extraction, amplification refractory mutation system (ARMS) polymerase chain reaction and direct DNA sequencing of δ- and ß-globin genes were exploited for detection of the mutations in these two genes in an individual with low hematological indices and normal HbA2. RESULTS: ARMS-PCR technique revealed the ß(+) IVSI-5 (G to C) mutation and direct DNA sequencing of the δ-globin gene detected a previously reported delta codon 12 (AAT-->AAA) HbA2-NYU. This study reports HbA2-NYU in association with the ß IVSI-5 (G to C) mutation in Iran. DISCUSSION: This report emphasizes that normal HbA2 expression in a ß-goblin carrier is due to mutation in the δ-globin gene and may cause misdiagnosis of thalassemia.


Assuntos
Padrões de Herança/genética , Mutação Puntual , Globinas beta/genética , Talassemia beta/genética , Talassemia delta/genética , Adulto , Análise Mutacional de DNA , Diagnóstico Diferencial , Feminino , Hemoglobina A2/análise , Hemoglobina A2/genética , Hemoglobinas Anormais/análise , Hemoglobinas Anormais/genética , Humanos , Irã (Geográfico) , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Talassemia beta/sangue , Talassemia beta/diagnóstico , Globinas delta/genética , Talassemia delta/sangue , Talassemia delta/diagnóstico
2.
Arch Iran Med ; 14(1): 61-3, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21194265

RESUMO

Here we report the result of three cases referred to our lab that had a combination of ß-thalassemia and hemoglobin D (Hb D) traits. These individuals had no symptoms of profound anemia and hematological indices were similar to that of a ß-thalassemia heterozygote. In all three cases, the Hb D level was elevated and no HbA was detected electrophoretically. The electrophoresis pattern suggested that all cases were homozygotes for Hb D. PCR followed by digestion with EcoRI and sequencing of the ß-globin gene confirmed the presence of Cd 121 GAA>CAA in the heterozygous form with another ß-globin mutation. In all cases, the mutations in the ß-globin gene were detected by ARMS PCR technique and they were either IVSII-I or IVSI-5. Hematological studies of the family members showed that thalassemia which caused the mutations and Hb D were in the trans position.


Assuntos
Hemoglobinas Anormais/genética , Globinas beta/genética , Talassemia beta/genética , Adulto , Análise Mutacional de DNA , Feminino , Hemoglobinas Anormais/análise , Heterozigoto , Homozigoto , Humanos , Padrões de Herança , Irã (Geográfico) , Masculino , Mutação Puntual , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Talassemia beta/sangue , Talassemia beta/diagnóstico
3.
Malays J Med Sci ; 17(4): 4-13, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22135555

RESUMO

BACKGROUND: The antidiabetic and antilipaemic effects of Phoenix dactylifera leaf extract (PDE) and its fractions were investigated in various rat models. METHODS: Diabetes was induced in male Wistar rats by alloxan monohydrate. Diabetic animals were randomly divided into 8 groups (1 diabetic control and 7 treated groups). Diabetic control animals received saline (5 mL/kg) orally, whereas the treatment groups received different doses of PDE (100, 200, and 400 mg/kg), PDE fractions (50, 100, and 200 mg/kg), or glibenclamide (4 mg/kg) orally once a day for 14 days. Blood was withdrawn for glucose determination on the 1(st), 6(th), 10(th), and 14(th) days. The rats were fasted overnight and then sacrificed on the 14(th) day; blood was collected for biochemical evaluation, including the levels of blood glucose, plasma insulin, serum triglyceride, and cholesterol. RESULTS: Subacute administration of PDE or its fractions in alloxan-induced diabetic rats significantly reduced blood glucose (P < 0.01). Water intake, serum triglyceride, and cholesterol also decreased in treated animals compared with the control group (P < 0.01). Plasma insulin level increased in the treated groups relative to the control group (P < 0.01). CONCLUSION: The results suggested that PDE exhibits antidiabetic and antilipaemic effects in alloxan-induced diabetic rats.

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