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Nanopore Third-Generation Sequencing for Comprehensive Analysis of Hemoglobinopathy Variants.

Clinical Chemistry, 2023
BACKGROUND Oxford Nanopore Technology (ONT) third-generation sequencing (TGS) is a versatile genetic diagnostic platform. However, it is nonetheless challenging to prepare long-template libraries for long-read TGS, particularly the ONT method for ...
Weilun Huang   +9 more
semanticscholar   +1 more source

Hemoglobinopathies

Hematology, 2003
AbstractThe outlook for patients with sickle cell disease has improved steadily during the last two decades. In spite of these improvements, curative therapies are currently available only to a small minority of patients. The main theme of this chapter is to describe new therapeutic options that are at different stages of development that might result ...
George F, Atweh   +7 more
openaire   +2 more sources

Recent advances in screening and diagnosis of hemoglobinopathy

Expert Review of Hematology, 2020
Introduction: Hemoglobinopathies are important causes of inherited disorders with substantial mortality and morbidity across the world. Therefore, proper utilization of available screening and diagnostic techniques are important for its diagnosis and ...
K. Ghosh   +3 more
semanticscholar   +1 more source

Hemoglobinopathies in pregnancy

Obstetrics and Gynecology Clinics of North America, 2004
Hemoglobinopathies represent a unique set of genetic disorders. Formerly, many affected individuals did not survive to childbearing age. Affected women now commonly reach childbearing age and desire pregnancy. Successful pregnancy is possible in many cases with carefully coordinated obstetric and medical management.
Valerie J, Rappaport   +2 more
openaire   +2 more sources

Hemoglobinopathies in Hungary

Hemoglobin, 1983
Hungary is a country in Central Europe where hemoglobinopathies were known to be rather rare. That is the reason why no survey was organized for studying the frequency of the occurrence of certain hemoglobinopathies in the Hungarian population. In spite of this, during our diagnostic work in the last fifteen years, several abnormal hemoglobin variants,
J, Szelényi   +4 more
openaire   +2 more sources

Hemoglobinopathies in Xinjiang

Hemoglobin, 1986
The present report summarizes the results of a search for hemoglobinopathies in 142,171 persons in Xinjiang, the results of structural analyses of abnormal hemoglobins in 134 families, and the incidence and distribution of abnormal hemoglobins and the thalassemias in eight ethnic groups or nationalities.
H. J. Li   +30 more
openaire   +2 more sources

Hemoglobinopathies in Israel

Hemoglobin, 1983
A survey of the various hemoglobinopathies in Israel is reported. The information was supplied from 13 hematology services throughout the country and from the Ministry of Health. The common hemoglobinopathies encountered were the thalassemias and sickle cell anemia. In addition, hemoglobin C and O Arab were found in isolated communities. Sporadic cases
R, Eliakim, E A, Rachmilewitz
openaire   +2 more sources

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