From the Guidelines
The hemoglobin electrophoresis result that indicates sickle cell anemia is HgSS, which shows the presence of two sickle hemoglobin genes. This diagnosis is based on the presence of sickle hemoglobin (HbS) in red blood cells, as discussed in the study by 1. While sickle cell anemia is commonly associated with individuals of African descent, it also affects people of Hispanic, Mediterranean, Middle Eastern, and Indian ancestry, as stated in the study by 1. The disease is more prevalent in regions where malaria is or was common because the sickle cell trait provides some protection against malaria.
Ethnic/Racial Distribution
The ethnic and racial distribution of sickle cell anemia is relevant to understanding the disease's prevalence. As mentioned in the study by 1, sickle cell anemia affects people of various ethnic and racial backgrounds, including Hispanic, Mediterranean, Middle Eastern, and Indian ancestry. This is because the sickle cell trait has evolved as a protective mechanism against malaria in these regions.
Inheritance Pattern
Sickle cell anemia follows an autosomal recessive inheritance pattern, meaning both parents must carry at least one copy of the sickle cell gene (HbS) to have a child with the disease, as explained in the study by 1. When both parents are carriers (HbAS), each child has a 25% chance of having sickle cell anemia (HbSS), a 50% chance of being a carrier, and a 25% chance of having normal hemoglobin.
Signs and Symptoms
Signs and symptoms of sickle cell anemia include:
- Anemia
- Fatigue
- Episodes of pain (pain crises)
- Delayed growth
- Susceptibility to infections
- Potential complications affecting multiple organs For infants, symptoms may include painful swelling of hands and feet, fatigue, fussiness, and jaundice, as discussed in the study by 1.
Education Needed for Parents
Parents need education about:
- Pain management
- Infection prevention (including vaccinations and prophylactic antibiotics)
- Hydration importance
- Recognizing signs of complications requiring immediate medical attention
- Nutritional needs
- The importance of regular medical follow-ups They should also receive genetic counseling regarding future pregnancies and information about support groups and resources available for families affected by sickle cell disease, as stated in the study by 1. Additionally, education on psychosocial care, including mental health issues and access to services, is essential, as discussed in the study by 1.
From the Research
Sickle Cell Anemia Diagnosis and Characteristics
- The hemoglobin electrophoresis report that indicates sickle cell anemia is c. HgSS 2.
- Sickle cell disease is not exclusive to Black children, it can occur in individuals of various ethnicities, including Hispanic populations, although it is more prevalent in certain geographic regions and ethnic groups 2, 3.
Ethnic/Racial Distribution and Inheritance Pattern
- Sickle cell anemia is a genetic disorder that can affect individuals of different ethnic backgrounds, including Hispanic, African, Asian, and Mediterranean populations 2, 3.
- The inheritance pattern of sickle cell anemia is autosomal recessive, meaning that an individual must inherit two copies of the mutated HbS gene (one from each parent) to express the disease 2, 3.
Signs and Symptoms
- Common signs and symptoms of sickle cell anemia include painful episodes, febrile illness, splenic sequestration, and other acute complications that may require hospitalization 3.
- The disease can also lead to chronic complications such as anemia, cardiovascular instability, and increased risk of infections 3.
Education Needed for Parents
- Parents of a child with sickle cell anemia need to be educated on the disease's pathophysiology, genetics, and management, including prompt treatment of acute complications and preventative measures to avoid adverse outcomes 3.
- They should also be informed about the importance of regular medical check-ups, vaccinations, and other preventive care measures to ensure the best possible outcome for their child 3.