Results 51 to 60 of about 18,864 (254)

[Hemoglobinopathies in Japan].

[Rinsho ketsueki] The Japanese journal of clinical hematology, 1989
One hundred and thirty one different hemoglobin (Hb) variants and 134 families with thalassemia syndrome were reported during 30 years search for hemoglobinopathy in Japan. Studies on their molecular pathology and gene abnormalities have elucidated the effects of base substitution in the genomic DNA.
openaire   +2 more sources

Prevention of the Hemoglobinopathies

Thalassemia Reports, 2013
The inherited hemoglobin disorders not only cause suffering and unhappiness to the patients but they also absorb a large part of resources and human effort in several countries which harbor the deleterious genes [...]
openaire   +3 more sources

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.
Sonia Maria Lissa, Sergio Luiz Bach, Juliana Spezia, Railson Henneberg, Paulo Henrique da Silva   +4 more
openaire   +3 more sources

HbA2 measurements in β-thalassemia and in other conditions

Thalassemia Reports, 2014
Quite a few papers have been written on the significance of elevated hemoglobin (Hb) A2 as a parameter for the diagnosis of β-thalassemia trait, on the cutoff values to be used in diagnostics and on the significance and effects of factors reducing or ...
Giovanni Ivaldi, Giuseppina Barberio, Cornelis L. Harteveld, Piero Giordano   +3 more
doaj   +1 more source

Red blood cell membrane proteome as a reporter of disease severity, transfusion impact and genetic background in transfusion‐dependent β‐thalassaemia

British Journal of Haematology, EarlyView.
Summary Omics technologies have transformed research in haemoglobinopathies, yet the proteome of RBCs remains largely unexplored in transfusion‐dependent thalassaemia (TDT). In this proteomic analysis, Red blood cell (RBC) membranes from 48 adults with TDT were compared with healthy controls.
Konstantina Theocharaki, Sophia Delicou, Aikaterini Ntzoura‐Kani, Nikolaos Simantiris, Marianna Politou, Veroniki Komninaka, Martina Samiotaki, Jerome Zoidakis, Marianna H. Antonelou   +8 more
wiley   +1 more source

A genetic risk score based on BCL11A and HBS1L‐MYB variants predicts clinical severity in Brazilian sickle cell anaemia patients

British Journal of Haematology, EarlyView.
Summary Individuals with sickle cell anaemia (SCA) exhibit significant clinical heterogeneity influenced by several factors, especially fetal haemoglobin (HbF) levels. Variations in adult HbF levels are partly explained by the co‐inheritance of genetic variants that regulate globin expression.
Gabriela S. Arcanjo, Alexsandro P. Silva, Madi V. Diniz, Igor F. Domingos, Diego A. Pereira‐Martins, Amanda B. Araújo, Talita S. S. França, Ana C. Anjos, Aderson S. Araujo, Edis Belini‐Junior, Sara T. O. Saad, Fernando F. Costa, Antonio R. Lucena‐Araujo, Marcos André C. Bezerra   +13 more
wiley   +1 more source

Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies: A Short Review on Classical Laboratory Methods—Isoelectric Focusing, HPLC, and Capillary Electrophoresis

International Journal of Neonatal Screening, 2018
Sickle cell disease (SCD) and other hemoglobinopathies are a major health concern with a high burden of disease worldwide. Since the implementation of newborn screening (NBS) for SCD and other hemoglobinopathies in several regions of the world, technical
Claudia Frömmel
doaj   +1 more source

The development of mass spectrometry-based approaches for the diagnosis of hemoglobinopathies [PDF]

Hemoglobinopathies are disorders of the protein hemoglobin (Hb), one of the most common inherited disorders, and pose an increasing healthcare problem. Worldwide, approximately 200 million people have hemoglobinopathies (Hartwell et al.
Radi, Krisztina
core  

Risk of progression to type 2 diabetes or regression to normoglycaemia among Ghanaians with prediabetes living in Ghana and the Netherlands: The RODAM prospective study

Diabetic Medicine, EarlyView.
Abstract Introduction Evidence shows that ethnicity affects the risk of progression of prediabetes to type 2 diabetes(T2D) or regression to normoglycaemia However, little is known about progression rates among sub‐Saharan African populations or whether geographical context affects risk variations.
Emmanuel Bannerman‐Williams, Yacoba Atiase, Bert‐Jan H. van den Born, Felix Patience Chilunga, Eva van der Linden, Karlijn A. C. Meeks, Erik Beune, Charles Agyemang, Charles Frederick Hayfron‐Benjamin   +8 more
wiley   +1 more source

Comparative Study of Red Blood Cell Parameters in Different Hemoglobinopathies Diagnosed by HPLC at a Tertiary Care Hospital, Rajkot, Gujarat

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Background: Inherited disorders of hemoglobin (hemoglobinopathies) are the most common genetic disorders in the world with 7% prevalence. Thalassemia and sickle cell anemia are the most prevalent hemoglobinopathies in India.
Khushbu K. Tilva, Deepa Jethwani, Payal Shah, Gauravi A. Dhruva   +3 more
doaj   +1 more source