Williams Hematology, 8e
|Part VI. The Erythrocyte >|
Chapter 47. The Thalassemias: Disorders of Globin Synthesis
Sections: Summary, Definitions and History, Different Forms of Thalassemia, Etiology and Pathogenesis, Molecular Basis of the Thalassemias, Pathophysiology, Clinical Features, Laboratory Features, Differential Diagnosis, Less Common Forms of Thalassemia, Therapy, Course, and Prognosis, Prevention, References.
Topics Discussed: thalassemia.
Excerpt:"The thalassemias are the commonest monogenic diseases
in man. They occur at a high gene frequency throughout the Mediterranean
populations, the Middle East, the Indian subcontinent, and Myanmar,
and in a line stretching from southern China through Thailand and
the Malay peninsula into the island populations of the Pacific.
They are also seen commonly in countries in which there has been
immigration from these high-frequency populations.Acronyms and abbreviations
that appear in this chapter include: ATP, adenosine triphosphate;
ATR-16, -thalassemia chromosome
16-linked mental retardation syndrome; ATR-X, -thalassemia
X-linked mental retardation syndrome; bp, base pairs; DNase I, an
enzyme used to detect DNA-protein interaction; EKLF, a transcription
factor erythroid Kruppel-like factor; HPFH, hereditary persistence
of fetal hemoglobin; HS, hypersensitive site to DNase I treatment;
LCR, locus control region; MCS, multispecies conserved sequences;
PCR, polymerase chain reaction; PHD region, a DNA region with zinc
finger motif commonly deleted in ATR-X -thalassemia;..."
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