Thalassemia

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Related to Thalassemia intermedia: Thalassemia minor

thalassemia

[‚thal·ə′sē·mē·ə]
(medicine)
A hereditary form of hemolytic anemia resulting from a defective synthesis of hemoglobin: thalassemia major is the homozygous state accompanied by clinical illness, and thalassemia minor is the heterozygous state and may not have evident clinical manifestations. Also known as Mediterranean anemia.

Thalassemia

 

(also thalassanemia), a familial hemolytic anemia, first detected in 1925 among inhabitants of the Mediterranean region. Thalassemia is caused by disturbances in hemoglobin synthesis.

References in periodicals archive ?
Thalassemia major, thalassemia intermedia and control group sex, age, ferritin and prohepcidin levels Age (year) (*) Ferritin (ng/mL) (**) TM 18/16 12.
Table 5: Differences in the impact of paternal age and consanguinity between thalassemia major and thalassemia intermedia using independent T test Thalassemia Thalassemia P OR(95%CI) intermedia major Father's age 35.
Overview on practices in thalassemia intermedia management aiming for lowering complication rates across a region of endemicity: the OPTIMAL CARE study.
On the other hand, the primary reason we consider our patient as thalassemia intermedia is that he is compound heterozygous for 3'UTR+1570 T>C and Cod 8(-AA) beta-globin gene mutations.
A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to over expression of delta globin chain and a mild thalassemia intermedia phenotype when co-inherited with [[beta].
If two persons with the trait have a child together, there is a 25% chance with each pregnancy that the child will have thalassemia major or thalassemia intermedia.
If both the genes are involved and disorder presents late in life, it is called as thalassemia intermedia.
Association of thalassemia intermedia with beta globin gene haplotype.
Ninety-five percent of those registered have [beta]-thalassemia major, and 5% have thalassemia intermedia or hemoglobin H disease.
Depending on the type of structural variant the thalassemic presentation can fare better or poorly,One example where the presentation can range from mild to thalassemia intermedia like picture is a combination of B gene mutation on none chromosome and gene for Hb D on the other.
A novel molecular basis for b thalassemia intermedia poses new questions about its pathopysiology.
The thalassemia-minor conditions produce minimal decrements in the Hb concentration; whereas, thalassemia intermedia and thalassemia major may be associated with moderate to severe decreases in Hb concentration.