Early Screening of Hemoglobinopathy in Indonesia Using Erythrocyte Indices [PDF]
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 ...
Yenny Surjawan +3 more
doaj +6 more sources
Distribution of Hemoglobinopathy in Nepalese Population
Background: Sickle cell and thalassemia are the inherited disorders of globin chain synthesis, and are the most common monogenic disease worldwide. This study aims to find the distribution of hemoglobinopathies (sickle cell and thalassemia) cases in ...
Rekha Manandhar Shrestha +5 more
doaj +2 more sources
BACKGROUND: Diagnosis of α-thalassemia can be challenging as it is clinically insignificant in the majority of patients who are presented with one or two α-gene deletion, it cannot be always suspected from the red cell indices, and the confirmatory tests
Abbas Hashim Abdulsalam +2 more
doaj +2 more sources
Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China
Thalassemia and hemoglobinopathy are two common inherited disorders, which are highly prevalent in southern China. However, there is little knowledge on the genotypes of thalassemia and hemoglobinopathy in Southeastern China.
Liangpu Xu, Meihuan Chen, Min Zhang
exaly +2 more sources
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]
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 ...
Ali, Bassam R. +11 more
core +5 more sources
Celocentesis for early prenatal diagnosis of hemoglobinopathy
Celocentesis is an invasive technique that can provide prenatal diagnosis of single‐gene disorders, from as early as 7 weeks' gestation. The objective of this study was to examine the safety of celocentesis.
G. Makrydimas +12 more
exaly +2 more sources
Background: Hereditary hemoglobin (Hb) disorders are the most commonly encountered single gene disorders in India. Proper timely identification of these disorders is of paramount importance to prevent thalassemia major and clinically severe ...
S. Mondal, Saikat Mandal
exaly +2 more sources
Hemoglobinopathy SD presenting as Hemoglobinopathy SS
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.
Sonia Maria Lissa +4 more
doaj +3 more sources
A rare case of renal medullary carcinoma without sickle cell hemoglobinopathy in a Japanese woman. [PDF]
Ishizaki M +4 more
europepmc +2 more sources
Distribution of hemoglobinopathy disorders in Saudi Arabia based on data from the premarital screening and genetic counseling program, 2011–2015 [PDF]
Eman S. Alsaeed +7 more
openalex +2 more sources

