Examine the above pedigree cha. Which one of the following diseases is the most likely for this situation?
Beta thalassemias (b thalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. Global annual incidence is estimated at 1 in 100,000. Beta thalassemias are caused by mutations in the HBB gene on chromosome 11, inherited in an autosomal recessive fashion. The severity of the disease depends on the nature of the mutation. HBB blockage over time leads to decreased beta-chain synthesis. The body's inability to construct new beta-chains leads to the underproduction of HbA. Reductions in HbA available overall to fill the red blood cells in turn leads to microcytic anemia. Microcytic anemia ultimately develops in respect to inadequate HBB for sufficient red blood cell functioning. Due to this factor, the patient may require blood transfusions to make up for the blockage in the beta-chains. Repeated blood transfusions can lead to build-up of iron overload, ultimately resulting in iron toxicity. This iron toxicity can cause various problems, including myocardial siderosis and hea failure leading to the patient's death.
Neurofibromatosis
Beta-thalassemia
Colour blindness
Vitamin D resistant rickets
General pathology