Updates in Hemoglobinopathies [PDF]
The Scientific World Journal, 2013 I am honored to invite you to enjoy reading this special issue of The Scientific World Journal. One review article is “Ineffective erythropoiesis in β-thalassemia.” The authors concluded that this ineffective erythropoiesis could be the conjunction of several mechanisms of which the final consequence is the arrest of maturation and increased ...
Youssef Al-Tonbary +4 more
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Vnitřní lékařství, 2018 This article summarize molecular-genetic basis of hemoglobinopathies, their classification and phenotypic manifestations. The description of individual subgroups is supplemented with a case reports of patients diagnosed in the Czech population. This paper provides an overview of 14 types of α-thalassemic mutations, 34 β-thalassemic alleles, 4 δβ ...
Karel, Indrák +6 more
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Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients [PDF]
, 2017 Background: Human erythropoiesis is characterized by distinct gene expression profiles at various developmental stages. Previous studies suggest that fetal-to-adult hemoglobin switch is regulated by a complex mechanism, in which many key players still ...
Chondrou, Vasiliki +11 more
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Early Screening of Hemoglobinopathy in Indonesia Using Erythrocyte Indices [PDF]
, 2017 BACKGROUND: The mutation spectrums of hemoglobinopathy are different among populations that yield a different result of erythrocyte indices. Calculation of erythrocyte indices with some formula has been reported to differentiate between hemoglobinopathy ...
Rositawati, W. (Wiwik) +3 more
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Prevalence of Inherited Hemoglobin Disorders and Relationships with Anemia and Micronutrient Status among Children in Yaoundé and Douala, Cameroon. [PDF]
, 2017 Information on the etiology of anemia is necessary to design effective anemia control programs. Our objective was to measure the prevalence of inherited hemoglobin disorders (IHD) in a representative sample of children in urban Cameroon, and examine the ...
Brown, Kenneth H +8 more
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New Aspects of Thromboangiitis obliterans (von Winiwarter-Buerger's Disease) [PDF]
, 1984 The existence of thromboangiitis obliterans as a clinical entity has been a matter of debate for many years. In contrast to other immunovasculitides there is no organ involvement while peripheral vessels are affected.
Berlit, Peter +3 more
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Breastfeeding and the anthropometric profile of children with sickle cell anemia receiving follow-up in a newborn screening reference service [PDF]
, 2015 ObjectiveTo study the breastfeeding history (BF) and the anthropometric status of children with Sickle Cell Disease (SCD).MethodsA cross-sectional study of 357 children with SCD aged between 2 and 6 years, regularly followed at a Newborn Screening ...
Amorim, Tatiana +5 more
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Hemoglobinopathy SD presenting as Hemoglobinopathy SS
Medicina (Ribeirão Preto), 2017 This case report shows the interaction of hemoglobin (Hb) S with Hb D. in a child previously diagnosed with sickle cell anemia based on the Hb electrophoretic migration pattern in alkaline pH. The sickling phenomenon was confirmed with 2% sodium metabisulfite.
Juliana Spezia +4 more
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First North American case of Hemoglobin Shepherds Bush (β 74[E18] Gly → Asp) in a central Pennsylvania family [PDF]
, 2014 BACKGROUND: Hemoglobin Shepherds Bush (Human Genome Variation Society name: HBB:c.224G > A) is an unstable hemoglobin variant resulting from a β 74 GGC to GAC mutation (Gly to Asp) that manifests clinically as hemolytic anemia or gall bladder disease due
Jordan Olson +3 more
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Retinopatia falciforme proliferativa associada a traço falciforme e diabetes gestacional: relato de caso [PDF]
, 2009 Proliferative sickle cell retinopathy is an uncommon complication in individuals with sickle cell trait (AS). However, the risk for proliferative retinopathy development is increased in patients with AS hemoglobinopathy associated with systemic ...
JORGE, Rodrigo +3 more
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