What is the pathophysiology of beta thalassemia major?

What is the pathophysiology of beta thalassemia major?

Pathophysiology of β-thalassemia. Because of the imbalance in chain synthesis, an excess of freed α-globin chains accumulates within erythroid cells. Aggregation, denaturation, and degradation of these chains leads to the formation of insoluble precipitates as well as hemichromes, which damage cell membranes.

Does thalassemia affect mental health?

However, the increasing longevity of children with thalassemia has brought psychological problems to the fore. Various authors have reported that up to 80% of children with thalassemia are likely to have psychological problems e.g. oppositional defiant disorder, anxiety disorders and depression (15-17).

What is thalassemia pathophysiology?

Thalassemia is a blood disorder that is caused by DNA mutations in cells that are responsible for producing hemoglobin. This leads to a reduction in the number and ability of the red blood cells to carry oxygen throughout the body and can cause sufferers to feel symptoms such as fatigue.

How does thalassemia affect the brain?

Results: Of the patients with thalassemia intermedia, 37.5% showed asymptomatic brain damage, and 52% of those with sickle cell-thalassemia disease showed asymptomatic brain damage. In the thalassemia intermedia group, atrophy was always mild and ischemic lesions were generally small (25%) and single (25%).

What is the difference between beta thalassemia major and beta thalassemia minor?

Someone who inherits a beta thalassemia mutation from one parent has beta thalassemia trait (beta thalassemia minor). Someone who inherits a beta thalassemia mutation from each parent has beta thalassemia intermedia or beta thalassemia major (Cooley’s anemia).

Why does beta thalassemia cause hemolysis?

The thalassemias (named from the Greek word for sea, thalassa1) are a group of inherited autosomal recessive hematologic disorders2 that cause hemolytic anemia because of the decreased or absent synthesis of a globin chain. Imbalances of globin chains cause hemolysis and impair erythropoiesis.

What happens beta thalassemia?

Beta thalassemia major causes major problems and can result in early death. Complications may include delayed growth, bone problems causing facial changes, liver and gall bladder problems, enlarged spleen, enlarged kidneys, diabetes, hypothyroidism, and heart problems.

What is the difference between beta thalassemia major and minor?

One mutated gene, you’ll have mild signs and symptoms. This condition is called thalassemia minor or beta-thalassemia. Two mutated genes, your signs and symptoms will be moderate to severe. This condition is called thalassemia major, or Cooley anemia.

What’s beta thalassemia?

What is beta thalassemia? Thalassemia (thal-uh-SEE-mee-uh) is a blood disorder that is inherited. This means it is passed down from one or both parents through their genes. When you have thalassemia, your body makes less hemoglobin than normal. Hemoglobin is an iron-rich protein in red blood cells.

How does thalassemia affect cognitive development?

Our study showed that thalassemia patients had cognitive impairment compared with the control group. From the various neuropsychological tests that were used in this study, the thalassemia group showed to be statistically lower especially in attention, verbal memory and executive function.

Why is HbF high in beta thalassemia?

These data suggest that the high HbF levels in HbE/β thalassemia, and other β thalassemia syndromes, result from increased erythropoietin levels leading to bone marrow expansion, and possibly increased F-cell production, combined with ineffective erythropoiesis giving a survival advantage to F cells.

What is the pathophysiology of beta thalassemia?

The β-thalassemias are genetic disorders of hemoglobin synthesis characterized by deficient (β+) or absent (β0) synthesis of the β-globin subunit of hemoglobin molecule (Weatherall and Clegg 2001). The vast majority of individuals with thalassemia inherit their disorder as a Mendelian recessive.

What causes thalassaemia intermedia in heterozygous beta-thalassaemic patients?

Galanello R, Perseu L, Perra C, et al. Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients. . –606. Viprakasit V, Gibbons RJ, Broughton BC, et al. Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. .

What is the pathophysiology of β-thalassemia?

The severity of anemia in β thalassemia reflects the degree of globin chain imbalance and the excess of α globin chains with all their deleterious effects on the red cell precursors. This globin chain imbalance can be genetically modified by two factors: variation in the amount of α globin production and variation in fetal hemoglobin response

What are the symptoms of thalassemia trait?

However, a recently controlled trial performed in Sri Lanka suggested that individuals with thalassemia trait may experience symptoms of anemia including headache, lethargy, fatigue, dizziness, and exercise intolerance despite having hemoglobin levels that overlap the normal range (Premawardhena et al. 2008).