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Sickle Cell Disease

25 de julio de 2021

4 min de lectura

Sickle cell disease (SCD) is genetic. This inherited blood disorder affects hemoglobin and red blood cells. Normal red blood cells are shaped like discs. They move easily via the blood vessels. Those with SCD have sickle or crescent-shaped red blood cells. These red blood cells often have difficulty moving through the blood vessels, blocking blood flow and causing various complications. Because these sickle-shaped cells do not last as long as normal red blood cells, they contribute to the development of anemia.

SCD is also known as HbS disease and hemoglobin S disease.

Risk Factors

Most people with SCD in the United States are African-American. According to the National Institute of Health’s Heart, Lung and Blood Institute, roughly one out of every 13 Black babies is born with sickle cell trait, and one out of every 365 is born with SCD.

However, SCD is not confined only to Black people. Those from Latino, Middle Eastern, Asian Indian, and southern European backgrounds may also have SCD.

Types of SCD

Types of SCD include:

HbSS –Also known as sickle cell anemia, this form of SCD occurs when the patient inherits the sickle gene from each parent. Sickle cell anemia is the most serious type of SCD.
HbSC –Those diagnosed with this type of SCD inherit a sickle cell gene from one parent and a gene causing abnormal hemoglobin from the other. This protein allows red blood cells to send oxygen to the body. HbSC is generally a mild type of SCD.
HbS beta thalassemia –This form of the disease is inherited by those carrying a sickle cell gene from one parent and from the other, a gene for beta-thalassemia. This is another type of anemia. Beta thalassemia comes in 0 and + types, with the former causing more severe SCD than the latter.

SCD Symptoms

SCD symptoms usually start in infancy. Young children experience frequent infections, anemia, and pain. Signs of anemia include:

Fatigue
Dizziness
Shortness of breath
Lack of energy
Irregular heartbeat
Fever

Anemia can result in developmental delays, including delayed sexual maturity.

Other SDC symptoms include jaundice, a yellowing of the skin, or the white of the eyes. The hands and feet may swell.

SDC symptoms in some children are mild, while in others, regular hospital stays are necessary.

SCD Diagnosis

SCD diagnosis is straightforward, requiring only a blood test. It is usually diagnosed at birth as the test is included in routine hospital screenings for newborns.

Blood tests will also reveal whether the parent is a carrier before the baby is born. Prenatal screening is available, with a sample taken of the amniotic fluid.

SCD Treatment

Because SCD is diagnosed immediately in most people, treatment can begin right away. That early treatment consists of pneumococcus bacteria vaccination, folic acid supplementation, and prophylactic penicillin.

Because SCD is a chronic disease, ongoing treatment may include:

Pain management therapy
Intravenous fluid
Antibiotics
Blood transfusions

Some patients will require surgery. Complications of SCD include:

Gallstones
Heart disease
Joint issues
Kidney problems
Leg ulcers –These ulcers usually do not affect those over 10.
Stroke

Women with SCD are at increased risk of problems during pregnancy. This includes a higher rate of miscarriage, low birth weight, and premature birth. Men may suffer from priapism, a prolonged and painful erection. Always seek medical help for an erection lasting more than four hours. Permanent damage to the penis may result.

The FDA has approved Endari, or L-glutamine oral powder, to reduce SDC symptoms in adults and children over 5. Hydroxyurea, marketed under the brand names Droxia and Siklos, is used to reduce the need for blood transfusions in adults and children and address pain crises.

SCD treatments can also cause side effects. Patients receiving long-term red blood cell infusion may develop transfusional iron overload. The body cannot get rid of this excess iron. This leads to an iron buildup in the organs, primarily the liver, heart, pancreas, and thyroid gland. Other parts of the endocrine system are vulnerable.

There is a cure for SCD in the form of a stem cell or bone marrow transplant. However, the donor must be a close match to the patient, usually a sibling. This is a risky procedure.

SCD Management

Managing SCD means visiting the doctor regularly for checkups. Patients should stay current on all vaccines, including an annual flu shot.

Regular exercise and a healthy diet are part of combating SCD. Do not smoke and keep any alcohol consumption to a minimum. Carry water at all times and stay hydrated.

Pain is part of living with SCD. Patients should start drinking lots of fluids when they feel SCD-related pain coming on, and take over-the-counter non-steroidal anti-inflammatory drugs (NSAIDs) for relief. Acetaminophen is the appropriate OTC pain reliever for people with kidney disease.

If the pain becomes unmanageable at home, head to the emergency room or a sickle cell disease outpatient unit if one is available. There, patients receive IV fluids and stronger pain medications. Hospitalization may prove necessary.

Sources

Sickle cell disease: MedlinePlus Genetics

Sickle Cell Disease | NHLBI, NIH

What is Sickle Cell Disease? | CDC

Home - Sickle Cell Disease Association of America Inc.

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