Alpha-thalassemia

An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.

Hypochromic anemia

A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.


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PMID (PMCID)
15481895
 FEMALE
An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha2-globin gene.
Harteveld CL, Wijermans PW, van Delft P, Rasp E, Haak HL, Giordano PC.
Hemoglobin. 2004;28(3):255-9.
The proband is an elderly woman (79 years of age) of Surinamese-Hindustani origin, suspected of being a carrier of a nondeletional alpha-thalassemia (thal) because of a moderate microcytic hypochromic anemia at normal ferritin levels and in the absence of any other alpha-thal deletions.
12811418
 MALE Middle Aged
[HbH disease--a rare differential diagnosis in a patient with anemia and abdominal pain].
Fabry U, Kohne E, Galm O, Osieka R.
Med Klin (Munich). 2003;98(6):335-8.
In the diagnostic workup of hemolytic and hypochromic anemia, HbH disease as a special type of alpha-thalassemia should be considered early.