They may also have an enlarged spleen due to trapped red blood cells. In the U. If the tests show that the infant has sickle cell disease, the healthcare team will follow up with the family over time. Tests are also available before birth, starting from weeks 8—10 of pregnancy.
If a person with a family history of sickle cell disease plans to have children, they may wish to meet with a genetic counselor and undergo genetic testing to find out if their children are likely to have the condition. Guidelines exist for treating the condition, but the Office of Disease Prevention and Health Promotion note that, currently, only 1 in 4 people receive the recommended standard of care.
Also, when a person with sickle cell disease experiences pain, a doctor may not treat it as promptly as they do in people who have pain with other conditions. Also, they may not prescribe appropriate dosages of pain medication.
The sections below will discuss the various treatment options for sickle cell disease in more detail. The CDC advise adults and children to take precautions to reduce the risk of infections.
These include:. A doctor may prescribe penicillin or another antibiotic for children below the age of 5 years. People with severe symptoms may need a blood transfusion or a stem cell transplant. Blood transfusions may be necessary if a person has severe anemia, an enlarged spleen, infections, or other complications.
A stem cell transplant using cells from a matched, healthy donor can cure sickle cell disease, but it can be risky. Also, the stem cells must be closely matched. People with sickle cell disease or sickle cell trait cannot give blood, but healthcare professionals encourage anyone who can donate to do so.
This may help a person with these conditions. Many people have a healthy pregnancy with sickle cell disease. However, there may be a higher chance of:. It's not caused by anything the parents did before or during the pregnancy and you cannot catch it from someone who has it.
To be born with sickle cell disease, a child has to inherit a copy of the sickle cell gene from both their parents. This usually happens when both parents are "carriers" of the sickle cell gene, also known as having the sickle cell trait.
Sickle cell carriers do not have sickle cell disease themselves, but there's a chance they could have a child with sickle cell disease if their partner is also a carrier. The Sickle Cell Society has more information about the inheritance of sickle cell disease , including what the risks are if a parent has sickle cell disease themselves. In the UK, sickle cell disease is most commonly seen in people of African and Caribbean backgrounds.
Figure 1. Inheritance of sickle genes from parents with sickle cell trait. As shown in the graphic, the couple has one chance in four that the child will be normal, one chance in four that the child will have sickle cell disease, and one chance in two that the child will have sickle cell trait. Bone infection. Increased immature red blood cells. Increased number of immature red blood cells. Increased number of platelets in blood.
Neurologic abnormalities. Neurological abnormality. Slowed or blocked flow of bile from liver. Elevated creatinine. High blood creatinine level. Increased creatinine. Increased serum creatinine. Low blood oxygen level. Pain in stomach. Stomach pain. Enlarged heart. Increased heart size. Blood in urine. Enlarged liver. Yellow skin. Yellowing of the skin. Bacterial infections, recurrent. Frequent bacterial infections. Increased susceptibility to bacterial infections.
Recurrent major bacterial infections. Renal failure. Renal failure in adulthood. Noninflammatory retina disease. Increased spleen size. Do you have more information about symptoms of this disease? We want to hear from you. Do you have updated information on this disease?
Inheritance Inheritance. Sickle cell anemia is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Diagnosis Diagnosis. Newborn Screening An ACTion ACT sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result.
An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics. Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
National Newborn Screening and Global Resource Center NNSGRC provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine. Treatment Treatment.
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