Eben Family Sickle Cell Foundation

What is Sickle Cell Anemia?

It is a lifelong genetic anemia caused by a single mutation in the HBB gene that leads to the production of Hemoglobin Sickle. A high concentration of Hemoglobin sickle is produced in the Red Blood Cells of patients with Sickle Cell Anemia, thereby deoxygenation in low oxygen conditions. Such occurrences can induce distortion, rigidity, and structural damage to the carrier’s Red Blood cells. Hence, the sickle shape cells! This restructuring makes the cells fragile and bears a shortened lifespan. What we are left with is chronic hemolytic anemia and the vaso-occlusive episodes that birth Sickle Cell anemia.

1 in 365 newborn Black Americans will have Sickle Cell anemia, and 1 in 13 newborn black Americans will carry the sickle cell trait. In Cameroon, around 20% of the population carries the sickle cell trait, and the disease prevalence is estimated at 0.6% in the general population.

Nearly 90 percent of the world’s SCA population lives in two African countries: Nigeria and the Democratic Republic of Congo, where the disease affects up to 2 percent of the population, and the carrier prevalence rate (sickle cell trait) is as high as 10 to 30 percent.

Episodes and Crisis

Vaso-occlusive events (VOEs) are a group of acute complications that are associated with SCA and include vaso-occlusive pain crises, acute chest syndrome (ACS), stroke, and splenic sequestration; VOEs can be triggered by a multitude of factors that cause the deoxygenation of Hemoglobin Sickle, such as illness, dehydration, cold temperatures, increased wind speed and higher barometric pressure.

VOEs can occur without warning and can have a very abrupt and severe impact on patient’s quality of life. During one of Emmanuel’s last crises, he was hospitalized for 6 days. Vaso-occlusive pain crisis is the most common VOE and is the leading cause of hospitalization. Pain crises are described differently for different patients—they can present as any type of pain such as aching, drilling, pounding, feeling like sharp knives, or throbbing, and can occur anywhere and migrate to other points of the body. Vaso-occlusive pain crisis can have a slow or rapid onset, and last a few hours, a week, or even longer.

Treatment and Management

There is no current permanent treatment or cure for Sickle Cell Anemia, hence pain management leads the chart. However, treatment of SCA is more than just pain management, a long-term plan and comprehensive approach may improve outcomes and quality of life. 

It is day by day of how the patient is going to feel. So it’s hard for SCA patients to have a normal life like other people. One day they may not feel like getting out of bed, while other days the have to wait for hours for pains in extremities stop hurting.

Patient care in SCA may include monitoring progressive damage, managing acute and chronic complications, and planning for long-term care.

Goal and Fundraising

The goal of the Eben Sickle Cell Foundation is to raise funds that can impact the sickle cell community. These efforts will be focused locally in Dallas, as well as in Africa beginning with Emmanuel’s home country Cameroon. In Cameroon, the resources needed to manage SCA are either not in place, too expensive to afford, or not circulated enough for the patient’s educational awareness. These include:

  • Identification of newborns with SCA as soon after birth as possible (before the development of complications)
  • Education regarding when to seek medical attention 
  • Prevention of infection (vaccinations, penicillin prophylaxis, and malaria prophylaxis)
  • Prompt treatment of infections, especially invasive bacterial infections, and malaria
  • Adequate pain control and hydration for vaso-occlusive pain
  • When possible, hydroxyurea for vaso-occlusive complications, especially primary and secondary stroke prevention, Reserving blood transfusions for life-threatening anemia

Locally in Dallas, the foundation aims to spearhead efforts toward adult genotype testing. Single-handedly, this preventative action can limit the number of babies born with Sickle Cell Anaemia – the ultimate goal of the Eben Sickle Cell Foundation.