This is a genetic assignment Rubric is attached (one suggested reference is Golsby and Grubb. Use a genogram. Narrative form. A complete history of the genogram narrative and what does it mean for the patient Must include pedigree, genotype diagram, 3 generations. Have a key to denote the genogram. LTG is a 3-year-old male diagnosed with sickle cell trait at birth 12/9/2018. Since the child has been hospitalized multiple times in crisis. The latest hospitalization May 2021. Requiring blood transfusion, oxygen therapy and pain management, and infection. Developmental delays secondary to 7hopitalization since birth, Suffering sickle cell crisis from anemia, pain frequent infections, no splenic sequestration. LTG is 3 an African American and 1/4 America Indian. Mother BJJ, 32 AA and American Indian with the trait. Father AA,37 AA with trait asymptomatic. LTJ sibling 8 your female AA and 1/4 AI, no trait. Paternal grandmother AA to LBJ is 62 AA, no trait, Paternal grandfather AA,63 trait of SC. Maternal grandmother 60, (AI) no trait, maternal grandfather (AA) died at 64 May 2020 of CHF, the trait of sickle cell.
Genetics Assignment: Sickle Cell Anemia
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Genogram
Patient History
The patient, LTG is a 3-year old male who was diagnosed with sickle cell trait at birth and has been hospitalized several times due to sickle cell crisis from anemia, frequent infections, and pain. He was last hospitalized in May 2021 and required pain management, oxygen therapy, and a blood transfusion. The patient has also experienced developmental delays from constant hospitalizations since birth. The patient has no splenic sequestration.
Assessment
Sickle cell anemia has specific genetic pathophysiology where it follows an autosomal recessive pattern. Autosomal recessive conditions appear when parents who both carry a mutated gene have a child who receives two copies of the gene from each parent. In the sickle cell, people with a single copy of the mutated gene are referred to as carriers or have the sickle cell trait. When two people who have sickle cell trait have a child, there is a 25 percent likelihood that the child will be diagnosed with sickle cell, a 50 percent likelihood that the child will have the sickle cell trait although they will be asymptomatic, and a 25 percent likelihood that the child will neither be a carrier nor have the condition (Goolsby & Grubbs, 2018).
Red Flags in the Three-Generation-Pedigree
The main red flags in the patient’s family history include ethnic predisposition towards sickle cell anemia and that many members of the family were already diagnosed with sickle cell. According to Campbell et al. (2020), people from specific ethnicities, especially those of African and Native American descent, are genetically predisposed to sickle cell. The patient’s parents and grandparents are either African American or Native American thus increasing the risk of sickle cell anemia. Additionally, his parents, his paternal grandfather, and his maternal grandfather have the sickle cell trait.
Evidence-Based Management Plan
Children with sickle cell disease should have access to preventive care to reduce the risk of infections and crises. Preventive care includes pneumococcal vaccinations and the administration of prophylactic oral penicillin up to at least age five (Sanyaolu et al., 2020). In the case study, the child’s parents should ensure that all vaccinations are up-to-date and should have access to oral penicillin. It is also important to ensure that the patient drinks sufficient amounts of water, especially during warm weather and that all infections are treated as soon as they occur to reduce the risk of vaso-occlusive crisis. The parents should also have access to medications such as acetaminophen that help relieve mild to moderate pain in case of crisis. Additionally, the parents should be informed of other treatment options such as bone marrow transplant which has proven to be an effective treatment for children with sickle cell.
Since the parents both have the sickle cell trait, it is important to educate them about the risk of having another child with sickle cell disease. According to Pecker et al. (2021), couples with sickle cell traits should have a reproductive life plan and should undergo risk assessment and health promotion counseling to reduce reproductive risk. For the patient’s family, reproduction counseling is still essential since his parents are young and may likely have more children.
References
Campbell, A., Colombatti, R., Andemariam, B., Strunk, C., Tartaglione, I., & Piccone, C. (2020). An Analysis of Racial and Ethnic Backgrounds within the CASiRe International Cohort of Sickle Cell Disease Patients: Implications for Disease Phenotype and Clinical Research. Journal of Racial and Ethnic Health Disparities, 8(1), 99-106. https://doi.org/10.1007/s40615-020-00762-2
Goolsby, M., & Grubbs, L. (2018). Advanced Assessment: Interpreting Findings and Formulating Differential Diagnoses (4th ed.). F.A. Davis.
Pecker, L., Sharma, D., Nero, A., Paidas, M., Ware, R., James, A., & Smith‐Whitley, K. (2021). Knowledge gaps in reproductive and sexual health in girls and women with sickle cell disease. British Journal of Haematology, 194(6), 970-979. https://doi.org/10.1111/bjh.17658
Sanyaolu, A., Agiri, E., Bertram, C., Brookes, L., Choudhury, J., & Datt, D. (2020). Current modalities of sickle cell disease management. Blood Science, 2(4), 109-116. https://doi.org/10.1097/bs9.0000000000000056