Hemoglobin C-Beta-Thalassemia Syndrome

Watchlist

(log in to enable)

Retrieved

2021-01-23

Source

Orphanet

Trials

—

Genes

—

Drugs

Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, haematopoietic stem cells and blood progenitors umbilical cord-derived expanded with (1R, 4R)-N1-(2-benzyl-7-(2-methyl-2H-tetrazol-5-yl)-9H-pyrimido[4,5-b]indol-4-yl)cyclohexane-1,4-diamine dihydrobromide dihydrate

Interested in hearing about new therapies?

Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.

Epidemiology

Prevalence of this form is not known but it is predominant in African populations.

Clinical description

Patients are usually asymptomatic and diagnosed during routine tests. When present, clinical manifestations are moderate anemia and splenomegaly.

Etiology

HbC - BT patients are compound heterozygotes for hemoglobin C and beta-thalassemia.

Diagnostic methods

Hematological findings always reveal microcytosis and hypochromia. Blood smear shows distinctive HbC crystals with straight parallel edges, target cells, and irregularly contracted cells with features of thalassemia such as microcytosis.