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On page 1 showing 1 ~ 3 papers out of 3 papers

De novo alpha 2 hemoglobin gene (HBA2) mutation in a child with hemoglobin M Iwate and symptomatic methemoglobinemia since birth.

  • Marcos Borato Viana‎ et al.
  • Revista brasileira de hematologia e hemoterapia‎
  • 2014‎

Cyanosis in an apparently healthy newborn baby may be caused by hemoglobin variants associated with the formation of methemoglobin, collectively known as M hemoglobins. They should not be confused with genetic alterations in methemoglobin reductase enzyme systems of red cells since treatment and prognosis are completely different. A newborn male child was noted to be significantly cyanotic at birth and is the basis for this report. Hemoglobin isoelectric focusing, acid and alkaline gel electrophoresis, and HBA/HBB gene sequencing were performed for the child, both parents and a sister. The newborn child was treated with methylene blue in an intensive care unit fearing that he had a defective reductase system and exposure to oxidant drugs or toxins. Newborn hemoglobin screening with high performance liquid chromatography was abnormal on the 10th and 45th days but no conclusive diagnosis was reached. Cyanosis persisted up to four years of age with no other symptoms. Hemoglobin M Iwate [alpha2 87(F8) His>Tyr, HBA2:c.262C>T] was detected. It was not present in the child's presumed mother, father, sister, and brother. The analysis of 15 short tandem repeats in the trio demonstrated a de novo mutation occurrence (p-value<1×10(-8)). The family was reassured that no further action was necessary and genetic counseling was provided. Methemoglobins should be considered for differential diagnosis of cyanosis in newborns even if no familial cases are detected. Except for cosmetic consequences, the clinical course of patients with hemoglobin M Iwate is unremarkable.


Interleukin-10 haplotypes are not associated with acute cerebral ischemia or high-risk transcranial Doppler in a newborn cohort of 395 children with sickle cell anemia.

  • André Rolim Belisário‎ et al.
  • Revista brasileira de hematologia e hemoterapia‎
  • 2017‎

The etiology of stroke, a severe complication of sickle cell anemia, involves inflammatory processes. However, the pathogenetic mechanisms are unknown. The aim of this study was to evaluate the influence of interleukin-10 polymorphisms and haplotypes on the risk of acute cerebral ischemia and high-risk transcranial Doppler in 395 children with sickle cell anemia from the state of Minas Gerais, Brazil.


Comparison between qualitative and real-time polymerase chain reaction to evaluate minimal residual disease in children with acute lymphoblastic leukemia.

  • Francisco Danilo Ferreira Paula‎ et al.
  • Revista brasileira de hematologia e hemoterapia‎
  • 2015‎

Minimal residual disease is an important independent prognostic factor that can identify poor responders among patients with acute lymphoblastic leukemia.


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