1. How could baby Sally inherit Fanconi anemia even though neither parent suffers from it?
Fanconi anaemia (FA) is heterogeneous rare and inherited disease (Ceccaldi, Sarangi & D'Andrea, (2016) . It results in multiple physical abnormalities, bone marrow failure, congenital abnormalities and increased risk of cancer occurrence. Since the disease is genetic, Sally inherited it from her parents who must have been carriers. Consequently, the unaffected carriers of FA gene mutation transmitted to her the disease by autosomal recessive mode when they became her parents. The diagram below illustrates how the transmission occurred.
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2. What other illnesses or developmental disabilities can be inherited in this way?
According Milunsky & Milunsky, (2015) common diseases that can be inherited through gene mutation include sickle cell anemia which affects the red blood cells and Cystic fibrosis which mostly affects the lungs, liver, pancreas and sex organs. Hereditary Hemochromatosis is another genetic disorder commonly known as iron overload which is associated with symptoms like sexual dysfunction, heart failure, liver cirrhosis, diabetes and fatigue. Other examples are Marfan syndrome and Huntington’s disease.
6. How could a sibling’s blood help cure Sally?
Donated code blood or stem cell transplant from Sally’s sibling will assist in preventing Fanconi anemia from affecting the blood system (MacMillan et al., (2015) . Low dose of pre-transplant chemotherapy drugs will be used to reduce Sally’s defective bone marrow. Thereafter injection of the health stem cell into her blood stream with the objective of making their way into the bone marrow thus starting to create healthy bone marrow that will function correctly.
10. What do you think the research team should do? What should the Shannons do?
The researchers can go ahead and try to find if there can be any other match of Sall’y bone marrow which may be quite difficult to get. Should a match be obtained, even without using Sally’s sibling they can proceed with the stem cell transplant. However, if a match cannot be obtained, the sibling’s stem cell may be the only option. The Shannons should be optimistic for such treatments have been done before but as well prepare for the risks associated with the procedures.
References
Ceccaldi, R., Sarangi, P., & D'Andrea, A. D. (2016). The Fanconi anaemia pathway: new players and new functions. Nature reviews Molecular cell biology , 17 (6), 337.
MacMillan, M. L., DeFor, T. E., Young, J. A. H., Dusenbery, K. E., Blazar, B. R., Slungaard, A., ... & Wagner, J. E. (2015). Alternative donor hematopoietic cell transplantation for Fanconi anemia. Blood , 125 (24), 3798-3804.
Milunsky, A., & Milunsky, J. M. (2015). Genetic disorders and the fetus: diagnosis, prevention, and treatment . John Wiley & Sons.
