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Sickle cell disease

Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape. These cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells)

Prevalence

>100 / 100 000

100,000

US Estimated

52,000

Europe Estimated

Age of Onset

Infancy

ICD-10

D57.0

with crisis

D57.1

without crisis

Inheritance Pattern

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

1

Sickle Cell Disease (SCD) is an autosomal recessive genetic disorder caused by a mutation in the HBB gene, leading to the production of abnormal hemoglobin S, which causes red blood cells to become rigid and sickle-shaped

FACT

2

Diagnosis is confirmed through hemoglobin electrophoresis, which reveals the presence of hemoglobin S, and newborn screening programs are essential for early detection and management of SCD

FACT

3

Clinical manifestations include recurrent vaso-occlusive crises, anemia, pain episodes, and complications such as stroke, acute chest syndrome, and organ damage, which necessitate comprehensive management strategies

FACT

4

Management includes supportive care with hydration, pain management, and blood transfusions to reduce complications and maintain hemoglobin levels. Hydroxyurea therapy is commonly used to increase fetal hemoglobin levels and reduce sickling

FACT

5

Bone marrow or stem cell transplantation is a potential curative treatment option for eligible patients, although its use is limited by availability of matched donors and associated risks

Interest over time

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Sickle cell disease is also known as...

Sickle cell disease is also known as:

  • HbS disease
  • Hemoglobin S Disease
  • Sickling disorder due to hemoglobin S

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Common signs & symptoms

Chronic hemolytic anemia

Recurrent infections

Abnormality of the spleen

Chest pain

Iron deficiency anemia

Leukocytosis

Current treatments

Individuals with glycogen storage disease type 2 are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care.

Hydroxyurea(Brand name: Droxia)

Manufactured by Bristol-Myers Squibb Co
FDA-approved indication: To reduce the frequency of painful crises and to reduce the need for blood transfusions in adult patients with sickle cell anemia with recurrent moderate to severe painful crises (generally at least 3 during the preceding 12 months).
National Library of Medicine Drug Information Portal
Medline Plus Health Information

L-glutamine oral powder (prescription grade)(Brand name: Endari)

Manufactured by Emmaus Medical, Inc.
FDA-approved indication: To reduce the acute complications of sickle cell disease in adult and pediatric patients 5 years of age and older.
National Library of Medicine Drug Information Portal

Hydroxyurea(Brand name: Siklos)

Manufactured by Addmedica Laboratories
FDA-approved indication: To reduce the frequency of painful crises and to reduce the need for blood transfusions in pediatric patients, 2 years of age and older, with sickle cell anemia with recurrent moderate to severe painful crisis.
National Library of Medicine Drug Information Portal
Medline Plus Health Information

See full disease profile