gastrointestinal symptoms including diarrhea are common in metabolic acidosis. Describe the genetic alteration which results in sickle cell anemia. Sickle cell anemia is a deformity of the hemoglobin, hemoglobin S (HbS), within the erythrocytes (Linder & McCance, 2019). According to Linder and McCance (2019), the HbS is formed by a mutation in the β-globin and leads to a change of one glutamate amino acid with a valine amino acid. An abnormality in β-globin can change erythrocytes to have a sickle shape. Linder and McCance (2019), mention that sickle cell disease is inherited in an autosomal recessive pattern since each parent carries one copy of the mutated gene. Draw a Punnett Square which shows her father as having a heterozygous genotype for sickle cell and her mother having a homozygous genotype for sickle cell anemia. Table 1 Punnett Square for Sickle Cell Anemia HbSS and Sickle Cell Trait HbAS Father A S S Mother S Note. Homozygous form of sickle cell anemia is characterized as HbSS, whereas heterozygous sickle cell trait is characterized as HbAS (Linder & McCance, 2019). The Punnett Square shows the union between a parent carrying the homozygous gene and heterozygous gene. The Punnett AS SS AS SS
THE CASE STUDY OF MS. X 5 Square shows us the probability of the child carrying the gene. (Jorde, 2019). What was this patient’s chance of having sickle cell trait? Sickle cell trait (HbAS) occurs when one sickle cell gene HbS (sickle cell hemoglobin) is inherited from one parent and one HbA gene (normal hemoglobin) from the other parent (Linder & McCance, 2019). According to the Punnett Square, Ms. X had a 50% chance of getting sickle cell anemia (SS) and 50% chance of getting sickle cell trait (AS).
- Fall '19
- Nursing, Sickle-cell disease, sickle cell trait