RESUMO
BACKGROUND: Hemoglobinopathies are the most common reported monogenic disorders worldwide. It is well established that Mediterranean and Arab countries are high risk areas for thalassemia in general, and for alpha thalassemia in particular. Reports of alpha thalassemia gene mutations from the Lebanese population are limited. PROCEDURE: We investigated the spectrum of alpha thalassemia mutations in a sample of 70 unrelated Lebanese families. Six different mutations of alpha thalassemia gene were identified. RESULTS: The most prevalent mutations were the single gene deletion -α(3.7) (43%) and the non-gene deletion α2 IVS1 [-5nt] (37%). The double deletional determinant -(MED) was detected only in 14% of thalassemic chromosomes. CONCLUSION: We determined the mutational spectrum of alpha thalassemia which might be used in the future for molecular investigations of the disease in susceptible patients in our population.
Assuntos
Mutação/genética , alfa-Globinas/genética , Talassemia alfa/genética , Família , Feminino , Seguimentos , Frequência do Gene , Humanos , Líbano/epidemiologia , Masculino , Reação em Cadeia da Polimerase , Prognóstico , Estudos Retrospectivos , Talassemia alfa/sangue , Talassemia alfa/epidemiologiaRESUMO
OBJECTIVE: To report a de novo exceptional complex chromosomal rearrangement (CCR) with four breakpoints in the male partner of a couple with recurrent abortions. DESIGN: Case report and review of the literature. SETTING: Genetics laboratory in a private hospital. PATIENT(S): A couple referred for recurrent abortions. INTERVENTION(S): Cytogenetic and sperm fluorescence in situ hybridization (FISH) techniques. MAIN OUTCOME MEASURE(S): Karyotype and FISH sperm results. RESULT(S): The couple was phenotypically normal, with no family history of miscarriage or infertility. Female karyotype was normal. Male karyotype followed by FISH analysis showed a de novo CCR with four breakpoints: t(5,13,16)(q11.1, q14.3, q12.2), ins(16;13)(q12.2;q?q14.2). ish t(5;13;16)(wcp5+,wcp13+), ins(16;13)(wcp13+). CONCLUSION(S): Exceptional de novo CCR male carriers with recurrent abortions are extremely rare. Patients with CCRs have limited options to achieve a normal pregnancy. Careful consideration and assessment should be provided upon counseling of couples with CCRs.