Genetic disorders beta thalassemia essay

Get Full Essay Get access to this section to get all help you need with your essay and educational issues.

Genetic disorders beta thalassemia essay

NTDT encompasses three clinically distinct forms: The hypercoagulable state in patients with NTDT has been primarily attributed to abnormalities in platelets and the pathological red blood cells, although several other factors are believed to be involved leading to clinical thrombosis.

As a result of this hypercoagulable state there is increased occurrence of venous thrombosis4. These silent strokes usually present with no obvious clinical features, but they have been proposed to have long term neurocognitive side effects, which can have damaging consequences to cognitive function as overt stroke6.

Genetic Disorders Essay Words | 6 Pages. Genetic disorders are a topic in biology that can not be avoided. The fact is that genetic disorders can happen in humans, plants or animal. More about Clinical Genetic Disorder: Beta Thalassemia. Genetic Disorders: Muscular Dystrophy Words | 12 Pages; Genetic Disorders Essay Words | 6. BETA THALASSAEAMIA Beta-thalassemia is known as one of the most common autosomal recessive disorders around the world (Coa et al, ). This condition is seen the most in populations of Central Asia, Mediterranean, Far East Indian subcontinent and populations of African descent. Free Essay: Orofacial characteristics of β –thalassemia major patients among the UAE population Introduction Beta thalassemia is a genetic disorder in which.

The exact prevalence of these lesions remains to be extensively studied. There is minimal literature available in India. There is Genetic disorders beta thalassemia essay urgent need to establish the prevalence of this complication in NTDT in this part of the globe, so as to generate a proper management protocol.

They may, however, require transfusion therapy in cases of poor growth, extensive evidence of extrameullary hematopoiesis, acute stressors like intercurrent illness, surgery or pregnancy, later in adulthood when the disease severity progresses, or in certain settings where a benefit of transfusion therapy has been established2.

Many patients with NTDT are set on a life of unnecessary regular transfusions, particularly if they present during a period of intercurrent infection requiring a few transfusion7.

The term NTDT lacks specific molecular correlates and the diagnosis remains largely clinical. In NTDT, the genetic basis for phenotypic diversity is best explained in terms of primary, secondary, and tertiary genetic modifiers9.

The secondary genetic modifiers are those that are involved directly in modifying the degree of globin-chain imbalance in beta thalassemia The coinheritance of alpha-thalassemia has this effect, and, because there are numerous different molecular forms of alpha-thalassemia of different severity, this interaction provides further scope for a wide range of different beta thalassemia phenotypes Similarly, the degree of globin chain imbalance can be reduced by the more effective synthesis of the gamma chains of fetal hemoglobin after birth.

Tertiary modifiers are those that are not related to globin chain production but that may have an important effect on the complications of the disease. The effect of this imbalance in globin chain synthesis leads to ineffective erythropoiesis and hemolysis As a result of this decreased erythroid red blood cells output resulting in chronic hypoxia there is increased erythroid expansion leading to development of bony and facial changes, organomegaly and extramedullary hematopoietic tumours Another cause for clinical symptoms is secondary to iron overloading in these patients.

Iron absorption is essentially controlled by hepcidin, a small peptide secreted by the hepatocytes, which blocks iron uptake in the intestine and iron release from the reticuloendothelial system Hepcidin expression is enhanced by iron overload and inflammation, whereas it is inhibited by anemia and hypoxia In NTDT, ineffective erythropoiesis is the central process that leads to inappropriately low hepcidin levels and increased intestinal iron absorption.

Thalassemia Disorders Essay Sample

Growth differentiation factor 15 inhibits hepcidin expression by opposing the effect of BMP, thereby leading to increased intestinal iron absorption and increased iron release from macrophages Consequently, the secretion of ferritin is reduced and its serum level relatively decreased This hypercoagulable state is attributed to abnormal platelets, activated endothelial cells and pathological red blood cells Patients with NTDT have chronically activated platelets and enhanced platelet aggregation, as confirmed by the increased expression of in vivo platelet activation markers CD62P P-selectin and CD It has been demonstrated that NTDT patients have 4 to 10 times higher prostacyclin and thromboxane A2 metabolites, both markers of hemostatic activity, as compared to healthy individuals Splenectomized NTDT patients also have higher platelet counts but with a shorter life-span due to enhanced consumption The red cells of patient with thalassemia are abnormal with less deformability increased rigidity and aggregationGenetic Disorders Essay Words | 6 Pages.

Genetic disorders are a topic in biology that can not be avoided. The fact is that genetic disorders can happen in humans, plants or animal. More about Clinical Genetic Disorder: Beta Thalassemia.

Genetic Disorders: Muscular Dystrophy Words | 12 Pages; Genetic Disorders Essay Words | 6. Thalassemia Disorders Essay Sample. At age eleven, I remember my doctor announcing that I had B thalassemia trait minor and I was a carrier. It did not strike me as hard as it did when I found out that a friend’s aunt has recently passed away from being defeated by B Thalassemia Major.

Essay on Genetic Disorders: Beta Thalassemia - Orofacial characteristics of β –thalassemia major patients among the UAE population Introduction Beta thalassemia is a genetic disorder in which the gene for the production of beta globin chain is defective. The coinheritance of alpha-thalassemia has this effect, and, because there are numerous different molecular forms of alpha-thalassemia of different severity, this interaction provides further scope for a wide range of different beta thalassemia phenotypes BETA THALASSAEAMIA Beta-thalassemia is known as one of the most common autosomal recessive disorders around the world (Coa et al, ).

This condition is seen the most in populations of Central Asia, Mediterranean, Far East Indian subcontinent and populations of African descent.

Beta thalassemia is a genetic disorder in which the gene for the production of beta globin chain is defective. The name thalassemia is derived from a combination of two Greek words: thalassa meaning the sea, i.e.

Genetic disorders beta thalassemia essay

the Mediterranean, and anaemia (“weak blood”). Therefore it is also known as.

Thalassemia Disorders | Essay Example