Genetic disorders beta thalassemia essay

These patients experience severe anemia and are more prone to enlarged spleen and frequent viral infections. If both genes are defective, yielding no production of beta globin, the individual will have Beta Thalassemia Major. As with all surgeries there is a risk of infection or even death.

There are several types of Thalassemia A. This hypercoagulable state is attributed to abnormal platelets, activated endothelial cells and pathological red blood cells White blood cells because of their larger size than RBC cause vessel lumen occlusion.

Diagnosed patient of non-transfusion dependent thalassemia. The exact prevalence of these lesions remains to be extensively studied. Some have mild microcytic anemia. The secondary genetic modifiers are those that are involved directly in Genetic disorders beta thalassemia essay the degree of globin-chain imbalance in beta thalassemia This is a rare occurrence, but has been done.

This leads increased expression of E-selectin, intercellular adhesion molecule-1, von Willebrand factor, and vascular cell adhesion molecule-1 in the endothelial cells as a result of released reactive oxygen species None of the patients were on aspirin ingestion at enrolment. Manfre et al gave the first documentation of silent stroke in NTDT patients in Ferritian Saturation is a screening test in children who have hypo chronic microcytic anemia.

In the minors, individuals appear clinically normal. Because blood transfusions can lead to iron overload, patients will need to be tested. Exact bone marrow donors are needed for this procedure. There is an 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.

To evaluate the frequency of silent cerebral infarction in non- transfusion dependent thalassemia children utilizing brain MRI. The A types include the following: The test is invasive and there is a longer recovery time. The genes are produced on different chromosomes which in turn produce two different pairs of proteins, alpha globin and beta globin.

In a cross-sectional brain MRI study by Taher et al conducted in Lebanon in splenectomized adults with NTDT who did not have any significant neurological or cognitive signs or symptoms or any stroke-related risk factors.

In NTDT, ineffective erythropoiesis is the central process that leads to inappropriately low hepcidin levels and increased intestinal iron absorption.

Inoral chelator, Engrade deferansirox was used. 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.

Hemoglobin production involves two sets of genes. 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 There is minimal literature available in India.

Due to the imbalance in the alpha and non alpha globin units there is Oxidation of globin subunits in thalassemia erythroid cells which leads to the formation of hemichromes Hepcidin expression is enhanced by iron overload and inflammation, whereas it is inhibited by anemia and hypoxia Cerebral vascular malformation detected in brain MRI 3.

Patients with diabetes mellitus 4. To understand more about the distinction of these disorders, we must first look at hemoglobin. This is evident from study by Catherine et al, where the predictors of arteriopathy lesions were early school age, recurrent upper respiratory tract infections and sickle cell disease.Beta Thalassemia Minor The individuals with thalassemia minor have only one copy of the beta thalassemia gene.

These individuals are said to be heterozygous for beta thalassemia and will have mild anemia. This free Health essay on Thalassemia is perfect for Health students to use as an example.

Thalassemia Disorders Essay Sample

from the increased production of ”-globin chains by a triplicated or quadruplicated alpha genotype associated with beta-heterozygosity9. In NTDT, the genetic basis for phenotypic diversity is best explained in terms of primary, secondary. Free Essay: Orofacial characteristics of β –thalassemia major patients among the UAE population Introduction Beta thalassemia is a genetic disorder in which.

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. the Mediterranean, and anaemia (“weak blood”).

Therefore it is also known as. Thalassemia Disorders (Azma RZ, ) Importance: Prevalence: Thalassemia is the “most prevalent genetic condition in Singapore” by Dr Angeline Lai, Head of Genetic Read More. Words 5 Pages. Thalassemia Essay Beta Thalassemia Essay Beta Thalassemia Beta.

Thalassemia Disorders Essay Sample.

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It is a genetic disorder that is recessive; therefore both parents must be carriers to pass on the disorder in its major form.

E-Beta Thalassemia is caused by one beta globin mutation and hemoglobin E causing a structural alteration in the globin chain. This combination will cause an intermediate .

Genetic disorders beta thalassemia essay
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