Beta-thalassemia

Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).

Abnormal hemoglobin

Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.


Total: 4

                       


(per page)
PMID (PMCID)
12764548
 MALE Middle Aged
HbHope/HbS and HbS/beta-thal double compound heterozygosity in a Mauritanian family: clinical and biochemical studies.
Deyde VM, Lo BB, Aw T, Fattoum S.
Ann Hematol. 2003;82(7):423-6.
Along with this abnormal hemoglobin, HbS and beta-thalassemia were also found.
9875660
 MIXED_SAMPLE Adult
Phenotype variability of the dominant beta-thalassemia induced in four Dutch families by the rare cd121 (G-->T) mutation.
Giordano PC, Harteveld CL, Michiels JJ, Terpstra W, Schelfhout LJ, Appel IM, Batelaan D, van Delft P, Plug RJ, Bernini LF.
Ann Hematol. 1998;77(6):249-55.
The presence of five abnormal hemoglobins and the beta-thalassemia defect on different haplotypes at cd121 also suggests a relatively increased rate of mutations at this particular site.
2739498
 FEMALE Adult
[Hemoglobin O Arab in interaction with beta 0-thalassemia].
Nikolov N, Andreeva M, Jankovic L, Efremov GD.
Lijec Vjesn. 1989;111(1-2):27-30.
Familial screening showed her father was heterozygous for the abnormal hemoglobin, whereas the mother was heterozygous for beta-thalassemia.
7129931
 MIXED_SAMPLE Child
Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly discovered delta chain variant with increased oxygen affinity occurring in cis to beta-thalassemia.
Salkie ML, Gordon PA, Rigal WM, Lam H, Wilson JB, Headlee ME, Huisman TH.
Hemoglobin. 1982;6(3):223-31.
An Indian family is described in which the father has a delta chain abnormal hemoglobin which is the result of a mutation of the delta gene in cis to a beta-thalassemia heterozygosity.