THALASSEMIA

Pronunciation (US):

(GB):

 Dictionary entry overview: What does thalassemia mean? 

• THALASSEMIA (noun)
  The noun THALASSEMIA has 1 sense:

1. an inherited form of anemia caused by faulty synthesis of hemoglobin

  Familiarity information: THALASSEMIA used as a noun is very rare.

 Dictionary entry details 

• THALASSEMIA (noun)

Sense 1

Meaning:

An inherited form of anemia caused by faulty synthesis of hemoglobin

Classified under:

Nouns denoting stable states of affairs

Synonyms:

Mediterranean anaemia; Mediterranean anemia; thalassaemia; thalassemia

Hypernyms ("thalassemia" is a kind of...):

monogenic disease; monogenic disorder (an inherited disease controlled by a single pair of genes)

hypochromic anaemia; hypochromic anemia (anemia characterized by a decrease in the concentration of corpuscular hemoglobin)

Hyponyms (each of the following is a kind of "thalassemia"):

Cooley's anaemia; Cooley's anemia; thalassaemia major; thalassemia major (a fatal form of homozygous thalassemia (inherited from both parents) in which there is no hemoglobin; skeletal deformations; heart and spleen and liver enlarged)

 Context examples 

Mutations in this gene may be associated with beta-thalassemia.

(HBG1 wt Allele, NCI Thesaurus)

Mutation in this gene are associated with beta-thalassemia.

(HBD wt Allele, NCI Thesaurus)

The severity of the phenotype may depend on the AHSP genotype of these individuals and elevating AHSP levels through gene therapy may provide a treatment strategy for beta-thalassemia.

(Hemoglobin Chaperone Pathway, NCI Thesaurus/BIOCARTA)

While it has no known role in oncogenesis, MIR144 plays a role in the development of thalassemia.

(MIR144 Gene, NCI Thesaurus)

Alteration in the expression of this gene is associated with development of thalassemia.

(MIR144 wt Allele, NCI Thesaurus)

Mutation or deletion of the gene is associated with alpha-thalassemia.

(HBA1 wt Allele, NCI Thesaurus)

Mutations in this gene are associated with beta-thalassemia.

(HBB wt Allele, NCI Thesaurus)

Secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions.

(Hemochromatosis, NIH: National Heart, Lung, and Blood Institute)

Mutations in the gene are associated with X-linked alpha-thalassemia/mental retardation syndrome, mental retardation syndromic X-linked with hypotonic facies syndrome type 1, and alpha-thalassemia myelodysplasia syndrome.

(ATRX wt Allele, NCI Thesaurus)

A form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes.

(Hemoglobin H Disease, NCI Thesaurus)