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Key Information About Sickle Cell Disease

Updated on November 29, 2022
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Srikanth is passionate about helping people improve their quality of life.

Sickle cell disease (SCD) is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body.

Red blood cells usually look like round discs. But in sickle cell disease, they are shaped like crescent moons, or an old farm tool known as a sickle.

This illness affects millions of people worldwide. An estimated 100,000 people in the US, primarily those of African and Middle Eastern descent. The first patient with the disease was described in 1910.

By the 1920s, doctors were recognizing sickle-cell disease as a distinct, hereditary form of anemia, and its varied manifestations had been well described by physicians and researchers.

In several parts of Africa, the prevalence of sickle cell trait (heterozygosity) is as high as 30 percent.

This chronic disease can make life more difficult, particularly for a child, who will need to deal with delayed sexual maturity and stunted growth.

Wikimedia Commons
Wikimedia Commons | Source


Hemoglobin (Hb) SS or sickle cell anemia
Hemoglobin (Hb) SC disease
Hemoglobin (Hb) S beta thalassemia
HBB gene, which is responsible for SCD is located on the short (p) arm of chromosome 11.
HBB gene, which is responsible for SCD is located on the short (p) arm of chromosome 11. | Source


Sickle cell disease is a genetic, inherited condition. It results from mutation, or change, of certain types of hemoglobin chains in red blood cells (the beta hemoglobin chains).

Although this disease has long been associated with people of African descent, it can be found in many races and ethnic groups, including Spanish, Brazilian, Indian, and even Caucasian.

One out of 365 Black newborns are born with it. The DC metro area has a high number of sickle cell patients relative to the rest of the USA given the significant percentage of Black Americans living in the region.

Exposure to systemic corticosteroids appeared to increase risk for hospitalization for vaso-occlusive episodes among patients with sickle cell disease, according to a French study published in Blood in April 2022.

Sickle Cell Disease Has Long Been Associated with People of African Descent



Symptoms of this multisystem disorder include excessive fatigue, irritability, fussiness, bedwetting, jaundice, swelling in hands and feet, frequent infections, pain in hands and feet chest pain, back pain and pain in the legs.

People with SCD face many challenges, including severe pain episodes, stroke, and organ damage.

Vaso-occlusive pain episodes experienced by patients with sickle cell disease vary tremendously in frequency and severity. These pains depend on organ involvement.

Some patients rarely have painful crises, while others spend the greater part of a given year in the hospital receiving analgesics.

Kidney function thresholds for hyperkalemia and metabolic acidosis are higher in patients with sickle cell disease (SCD), even falling within the normal range.

There is no way to describe the pain. It is excruciating, it feels like pressure on your bones. Like someone is trying to break all of your bones at the same time.

— Osayi Olotu, social entrepreneur and sickle cell patient.


Over time, sickle cell disease can lead to complications such as infections, delayed growth, and episodes of pain, called pain crises.


A blood test can check for hemoglobin S — the defective form of hemoglobin that underlies sickle cell disease.


Treatment can lower the chance of complications and lengthen life.

For sickle cell crisis, when the severity of the episode is assessable, self-treatment at home with bed rest, oral analgesia, and hydration is possible.

Doctors usually prescribe hydroxycarbamide (hydroxyurea) to treat this disease. It increases hemoglobin and decreases the number of attacks. It is an oral medication.

Voxelotor, developed by Global Blood Therapeutics and sold under the brand name Oxbryta, is a medication used for the treatment of sickle cell disease. It is the first hemoglobin oxygen-affinity modulator.

Leslie Lehmann, MD, clinical director of the Stem Cell Transplantation Program at Dana-Farber/Children’s Hospital Cancer Center (DF/CHCC) says that this disease can be cured in some cases by stem cell (aka bone marrow) transplant.

Gene therapy aims to treat genetic diseases by providing cells with a new set of instructions to change how they function, with the aim of correcting the condition.

SCD results from alterations in the HBB gene, which produces the protein beta-globin. By adding a new version of this gene, it may be possible to prevent RBCs from developing a sickle shape.

In a presentation at ASGCT 2022, investigators shared preclinical results of a gene-editing strategy that seeks to reactivate developmentally silenced fetal hemoglobin (HbF, α2γ2) in order to replace defective sickle hemoglobin (HbS, α2βS2).

Juice from the Alchornea cordifolia plant, or Christmas Bush, works as a treatment for sickle cell disease.

Did you know there’s been a cure for sickle cell disease for nearly 40 years?

— Leslie Lehmann, MD, Dana-Farber/Children’s Hospital Cancer Center (DF/CHCC).


Keep yourself hydrated. Wear warm clothes to prevent cold. Avoid sudden temperature changes, such as swimming in cold water. Avoid high altitudes. Avoid strenuous exercise.

"We need to utilize quality measures to protect one of the most vulnerable groups in our society - children with sickle cell disease," said Freed, M.D., M.P.H., a pediatrician and researcher at the University of Michigan C.S. Mott Children’s Hospital.


  • In sickle cell disease, red blood cells are shaped like sickle.
  • This disease results from mutation.
  • Pain is a symptom of this disease.
  • This disease can delay growth.
  • Blood test is used to diagnose this disorder.
  • Hydroxycarbamide is used to treat this condition.
  • Keeping yourself hydrated is one way of reducing the risk of this medical condition.

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This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.

© 2019 Srikanth R


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