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.

Hypochromia

A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.


Total: 3

                       


(per page)
PMID (PMCID)
16370494
 MALE Infant, Newborn
A new G(gamma) chain variant: Hb F-Bron [gamma20(B2)val-->Ala].
Lacan P, Burnichon N, Becchi M, Zanella-Cleon I, Aubry M, Couprie N, Francina A.
Hemoglobin. 2005;29(4):301-5.
Hematological abnormalities included hypochromia and microcytosis and were probably caused by an interaction with an alpha-thalassemia (thal) (3.7 kb) deletion in the heterozygous state.
15481894
 MIXED_SAMPLE Adult
A novel alpha-thalassemia nonsense mutation in codon 23 of the alpha2-globin gene (GAG-->TAG) in a Tunisian family.
Siala H, Fattoum S, Messaoud T, Ouali F, Gerard N, Krishnamoorthy R.
Hemoglobin. 2004;28(3):249-54.
Herein we describe a novel alpha-thalassemia (thal) point mutation in the alpha2-globin gene, found in a 3-year-old Tunisian girl who had Hb Bart's (gamma4) at birth, later on presenting with moderate anemia, microcytosis and hypochromia.
8342542
 MALE Adult
A new alpha-thalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote.
Indrak K, Gu YC, Novotny J, Huisman TH.
Am J Hematol. 1993;43(2):144-5.
A new alpha-thalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote.