S,C Disease, Hemoglobin Disorder Screening -Infant

Summary of Recommendation and Evidence

Population	Recommendation	Grade (What's This?)
Screening of both Genders	The genetic screening for Sickle Cell Disease is recommended.	B

Sickle cell disease is a rare inherited blood disorder. It is characterized by the presence of sickle or crescent shaped red blood cells (erythrocytes) in the bloodstream.

OVERVIEW

A red blood cell disorder caused by the presence of hemoglobin S in the absence of hemoglobin A. When deoxygenated, hemoglobin S causes red blood cells to deform into a sickle shape and become brittle. These cells are rapidly removed from the circulation, resulting in anemia, and cause occlusion of small blood vessels, resulting in injury to organs, ischemic pain, and increased risk of infection. Variant forms exist.

SCREENING

Finding

Presence of Hemoglobin F, S, C without Hemoglobin A

Tested By

Isoelectric focusing (IEF) (in Utah)

PREVALENCE

About 1:500 African-American births and 1:1,000-1,400 Hispanic-American births. It occurs in African, Mediterranean (Greek, Turkish, Italian), Arabian, Indian, and Hispanic populations more commonly than in Northern European populations.

INHERITANCE

Hb S/C is inherited in an autosomal recessive manner. It affects both boys and girls equally.

PRENATAL TESTING

Genetic diagnosis by amniocentesis, CVS, or fetal blood sampling.

CLINICAL CHARACTERISTICS

Symptoms and symptom severity vary by individual. Onset may occur in infancy or childhood, but usually after 4 months of life.

Symptoms may include:

Anemia
Jaundice
Pain (most likely due to ischemia from vaso-oclussion)
Enlarged spleen, followed by autosplenectomy
Fever
Increased susceptibility to infection, particularly with pneumococcus
Acute chest syndrome (associated with infection, surgery/general anesthesia, pulmonary infarction or embolism)
Leg ulcers
Fatigue
Pneumonia
Splenic sequestration
Bone damage
Kidney damage
Aplastic crisis (associated with parvoviral infection)
Gallstones
Priapism
Bloody urine
Stroke

If not treated appropriately, patients may experience:

Spleen damage and infections
Eye damage and blindness
Growth retardation
Delayed maturation

EARLY SIGNS

Signs of S, C disease (Hb S/C) usually begin a couple of months after birth. In some cases, signs may not appear until childhood.

Early signs of Hb S/C include:

Sleeping longer or more often
Tiredness
Difficulty breathing
Pain or swelling in the hands or feet
Cold hands or feet
Pale skin

These signs can occur if your baby has a low number of red blood cells or if the crescent/sickle shaped red blood cells stick together and block a blood vessel.

CAUSES

Every cell of the human body needs oxygen. One responsibility of our blood is to bring the oxygen we breathe from our lungs to the different parts of our body. Round or donut-shaped red blood cells carry the oxygen in the blood and can move easily through our blood vessels.

Babies with S, C disease (Hb S/C) do not make enough healthy red blood cells. If you baby has Hb S/C, his or her body makes some red blood cells that are crescent or sickle shape rather than a round donut shape. These unusually shaped cells do not live as long as normal red blood cells. This can lead to a condition called anemia, in which there is a very low number of red blood cells in the bloodstream.

The sickle or crescent shaped cells also tend to get stuck in blood vessels. When this happens, some parts of the body may not get enough blood.If red blood cells are not able move through the blood vessels, the body cannot get enough oxygen. This can cause many of the signs mentioned in Early Signs.

S, C disease (Hb S/C) is an autosomal recessive genetic condition. S, C disease (Hb S/C) occurs when a child inherits two non-working genes, one from each parent: one gene with the S trait (sickle cell anemia trait) and one gene with the C trait (hemoglobin C disease trait). Both sickle cell anemia and hemoglobin C disease are genetic conditions that affect the quality of the red blood cells.

The parents of a child with S, C disease (Hb S/C) each carry a single copy of one of these non-working genes, but they typically do not show signs and symptoms of the condition. While having a child with S, C disease (Hb S/C) is rare, when both parents are carriers, they can have more than one child with the condition.

TREATMENT

Fluids

Dehydration occurs when an individual does not have enough fluid in his or her body. Babies with S, C disease (Hb S/C) need to get plenty of fluids because dehydration can increase the pain associated with Hb S/C.

Medications

Children with Hb S/C may need pain medication. Pain associated with Hb S/C can usually be managed through over-the-counter painkillers like Tylenol. If it continues or becomes severe, your baby’s doctor may prescribe stronger medicines.

If your baby has Hb S/C, he or she may develop repeated infections, especially during childhood. Your baby’s doctor may prescribe a daily dose of antibiotics to help prevent these infections.

Your baby’s doctor may also prescribe Hydroxyurea if your baby’s Hb S/C is severe. This medication prevents anemia (low levels of red blood cells) by keeping the red blood cells from becoming sickle or crescent-shaped.

Blood Transfusions

Some children with Hb S/C may need a blood transfusion because they do not have enough healthy red blood cells. In this procedure, blood from a healthy individual is given to someone with Hb S/C.

EXPECTED OUTCOMES

Treatments can help relieve some of the signs, symptoms, and complications of S, C disease (Hb S/C). Children who receive early and on-going treatment can live healthy lives.

Even with proper treatment, your child may still experience some signs and symptoms such as pain, anemia, and yellowish skin (jaundice). The more carefully you follow your child’s treatment plan, the healthier he or she can be.

It is important to screen for and treat Hb S/C because, if left untreated, babies with a severe form of the condition can die within their first year of life.