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What are the phenotypes/appearances that this disorder shows? 

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What are the phenotypes/appearances that this disorder shows? 

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Symptoms for beta-Thalassemia can include pale skin, irritability, growth retardation, swelling of the abdomen, and jaundice. Symptoms for alpha-Thalassemia include, anemia, slowed growth, bone problems, enlarged spleen, jaundice, and poor appetite. This relates to the phenotype because it shows the changes in appearances that happens with this disorder. For example, you become jaundice with Thalassemia which means your skin starts yellowing and the whites of your eyes or more yellow.

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This is a blood disorder that reduces the amount of hemoglobins being produced. Hemoglobin is an iron-containing protein in red blood cells that carries oxygen to cells throughout the body. This leads to lack of oxygen in many other parts of the body. People with Thalassemia also sometimes get life-threatening anemia and have a hard time growing. Not to mention, affected individuals can have an enlarged spleen, liver, and heart, and their bones may be misshaped. Some children with this experience majorly delayed puberty.

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Pete Sampras a professional tennis player has Thalassemia along with a soccer player Zinedine Zidane.

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This is hereditary because a child who got two thalassemia genes passed down (one from each parent) will have the disease. To explain further, a child of two carriers has a 25% of getting two genes for developing this disease and have a 50% chance of being a carrier.

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Works Cited

“About Thalassemia.” Genome.gov, www.genome.gov/Genetic-Disorders/Thalassemia.

“AboutKidsHealth.” AboutKidsHealth, www.aboutkidshealth.ca/Article?contentid=368&language=English.

“Beta Thalassemia - Genetics Home Reference - NIH.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/beta-thalassemia.

“Health and Medical Information Produced by Doctors.” MedicineNet, MedicineNet, www.medicinenet.com/search/mni/thalassemia phenotypes.

“Thalassemia.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/7756/thalassemia.

“Thalassemia.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/7756/thalassemia.

“Thalassemia.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/7756/thalassemia.

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What mutation in the cells made this happen?

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What mutation in the cells made this happen?

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Beta-Thalassemia is caused by a mutation in the HBB gene. While Alpha-Thalassemia on the other hand is caused by a mutation in the HBA1 and/or HBA2 gene. Inheritance of Alpha-Thalassemia is by the mutations in the two different genes that are associated with the condition. People have two copies of HBA1 in their cells and two copies of ABA2. For each gene, one copy is inherited from the mother and one from the father. If each parent is missing at least one gene copy their children are at risk of Alpha-Thalassemia. However, the risk and severity of a child’s condition depend on how many gene copies were deleted and which copy of the HAB1 and HAB2 genes are affected.

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What is the rate of occurrence with Thalassemia?

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What is the rate of occurrence with Thalassemia?

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The disease is passed to children by parents who carry the mutated thalassemia gene. A child who inherits one mutated gene is a carrier. Most people affected by Beta-Thalassemia have two mutated copies of the ABB gene in each cell. Parents of those affected who are carriers usually only carry one of the mutated genes.