Preferred Name

Sickle Cell Anemia

Synonyms

Hemoglobin SS Disease

Definitions

<h3>What is sickle cell disease (SCD)?</h3> <p>Sickle cell disease (SCD) is a group of inherited red blood cell disorders. If you have SCD, there is a problem with your hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. With SCD, the hemoglobin forms into stiff rods within the red blood cells. This changes the shape of the red blood cells. The cells are supposed to be disc-shaped, but this changes them into a crescent, or sickle, shape.</p> <p>The sickle-shaped cells are not flexible and cannot change shape easily. Many of them burst apart as they move through your blood vessels. The sickle cells usually only last 10 to 20 days, instead of the normal 90 to 120 days. Your body may have trouble making enough new cells to replace the ones that you lost. Because of this, you may not have enough red blood cells. This is a condition called <a href="https://medlineplus.gov/anemia.html">anemia</a>, and it can make you feel tired.</p> <p>The sickle-shaped cells can also stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen can't reach nearby tissues. The lack of oxygen can cause attacks of sudden, severe pain, called pain crises. These attacks can occur without warning. If you get one, you might need to go to the hospital for treatment.</p> <h3>What causes sickle cell disease (SCD)?</h3> <p>The cause of SCD is a defective gene, called a sickle cell gene. People with the disease are born with two sickle cell genes, one from each parent.</p> <p>If you are born with one sickle cell gene, it's called sickle cell trait. People with sickle cell trait are generally healthy, but they can pass the defective gene on to their children.</p> <h3>Who is at risk for sickle cell disease (SCD)?</h3> <p>In the United States, most of the people with SCD are African Americans:</p><ul> <li>About 1 in 13 African American babies is born with sickle cell trait</li> <li>About 1 in every 365 black children is born with sickle cell disease</li> </ul> <p>SCD also affects some people who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds.</p> <h3>What are the symptoms of sickle cell disease (SCD)?</h3> <p>People with SCD start to have signs of the disease during the first year of life, usually around 5 months of age. Early symptoms of SCD may include:</p><ul> <li>Painful swelling of the hands and feet</li> <li>Fatigue or fussiness from anemia</li> <li>A yellowish color of the skin (<a href="https://medlineplus.gov/jaundice.html">jaundice</a>) or the whites of the eyes (icterus)</li> </ul> <p>The effects of SCD vary from person to person and can change over time. Most of the signs and symptoms of SCD are related to complications of the disease. They may include severe pain, anemia, organ damage, and infections.</p> <h3>How is sickle cell disease (SCD) diagnosed?</h3> <p>A blood test can show if you have SCD or sickle cell trait. All states now test newborns as part of their screening programs, so treatment can begin early.</p> <p>People who are thinking about having children can have the test to find out how likely it is that their children will have SCD.</p> <p>Doctors can also diagnose SCD before a baby is born. That test uses a sample of amniotic fluid (the liquid in the sac surrounding the baby) or tissue taken from the placenta (the organ that brings oxygen and nutrients to the baby).</p> <h3>What are the treatments for sickle cell disease (SCD)?</h3> <p>The only cure for SCD is <a href="https://medlineplus.gov/bonemarrowtransplantation.html">bone marrow</a> or <a href="https://medlineplus.gov/stemcells.html">stem cell</a> transplantation. Because these transplants are risky and can have serious side effects, they are usually only used in children with severe SCD. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister.</p> <p>There are treatments that can help relieve symptoms, lessen complications, and prolong life:</p><ul> <li><a href="https://medlineplus.gov/antibiotics.html">Antibiotics</a> to try to prevent infections in younger children</li> <li><a href="https://medlineplus.gov/painrelievers.html">Pain relievers</a> for acute or chronic pain</li> <li>Hydroxyurea, a medicine that has been shown to reduce or prevent several SCD complications. It increases the amount of fetal hemoglobin in the blood. This medicine is not right for everyone; talk to your health care provider about whether you should take it. This medicine is not safe during pregnancy.</li> <li><a href="https://medlineplus.gov/childhoodvaccines.html">Childhood vaccinations</a> to prevent infections</li> <li><a href="https://medlineplus.gov/bloodtransfusionanddonation.html">Blood transfusions</a> for severe anemia. If you have had some serious complications, such as a <a href="https://medlineplus.gov/stroke.html">stroke</a>, you may have transfusions to prevent more complications.</li> </ul> <p>There are other treatments for specific complications.</p> <p>To stay as healthy as possible, make sure that you get regular medical care, live a healthy lifestyle, and avoid situations that may set off a pain crisis.</p> <p class="">NIH: National Heart, Lung, and Blood Institute</p>

ID

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002895

altLabel

Hemoglobin SS Disease

Hemoglobin SS disease

Sickle Cell Disease

Sickle cell anemia

cui

C0002895

Date created

09/23/1999

definition

What is sickle cell disease (SCD)?

Sickle cell disease (SCD) is a group of inherited red blood cell disorders. If you have SCD, there is a problem with your hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. With SCD, the hemoglobin forms into stiff rods within the red blood cells. This changes the shape of the red blood cells. The cells are supposed to be disc-shaped, but this changes them into a crescent, or sickle, shape.

The sickle-shaped cells are not flexible and cannot change shape easily. Many of them burst apart as they move through your blood vessels. The sickle cells usually only last 10 to 20 days, instead of the normal 90 to 120 days. Your body may have trouble making enough new cells to replace the ones that you lost. Because of this, you may not have enough red blood cells. This is a condition called anemia, and it can make you feel tired.

The sickle-shaped cells can also stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen can't reach nearby tissues. The lack of oxygen can cause attacks of sudden, severe pain, called pain crises. These attacks can occur without warning. If you get one, you might need to go to the hospital for treatment.

What causes sickle cell disease (SCD)?

The cause of SCD is a defective gene, called a sickle cell gene. People with the disease are born with two sickle cell genes, one from each parent.

If you are born with one sickle cell gene, it's called sickle cell trait. People with sickle cell trait are generally healthy, but they can pass the defective gene on to their children.

Who is at risk for sickle cell disease (SCD)?

In the United States, most of the people with SCD are African Americans:

  • About 1 in 13 African American babies is born with sickle cell trait
  • About 1 in every 365 black children is born with sickle cell disease

SCD also affects some people who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds.

What are the symptoms of sickle cell disease (SCD)?

People with SCD start to have signs of the disease during the first year of life, usually around 5 months of age. Early symptoms of SCD may include:

  • Painful swelling of the hands and feet
  • Fatigue or fussiness from anemia
  • A yellowish color of the skin (jaundice) or the whites of the eyes (icterus)

The effects of SCD vary from person to person and can change over time. Most of the signs and symptoms of SCD are related to complications of the disease. They may include severe pain, anemia, organ damage, and infections.

How is sickle cell disease (SCD) diagnosed?

A blood test can show if you have SCD or sickle cell trait. All states now test newborns as part of their screening programs, so treatment can begin early.

People who are thinking about having children can have the test to find out how likely it is that their children will have SCD.

Doctors can also diagnose SCD before a baby is born. That test uses a sample of amniotic fluid (the liquid in the sac surrounding the baby) or tissue taken from the placenta (the organ that brings oxygen and nutrients to the baby).

What are the treatments for sickle cell disease (SCD)?

The only cure for SCD is bone marrow or stem cell transplantation. Because these transplants are risky and can have serious side effects, they are usually only used in children with severe SCD. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister.

There are treatments that can help relieve symptoms, lessen complications, and prolong life:

  • Antibiotics to try to prevent infections in younger children
  • Pain relievers for acute or chronic pain
  • Hydroxyurea, a medicine that has been shown to reduce or prevent several SCD complications. It increases the amount of fetal hemoglobin in the blood. This medicine is not right for everyone; talk to your health care provider about whether you should take it. This medicine is not safe during pregnancy.
  • Childhood vaccinations to prevent infections
  • Blood transfusions for severe anemia. If you have had some serious complications, such as a stroke, you may have transfusions to prevent more complications.

There are other treatments for specific complications.

To stay as healthy as possible, make sure that you get regular medical care, live a healthy lifestyle, and avoid situations that may set off a pain crisis.

NIH: National Heart, Lung, and Blood Institute

Inverse of RQ

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002895

Inverse of SY

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002895

Mapped from

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002895

Mapped to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002895

MP OTHER LANGUAGE URL

Spanish https://medlineplus.gov/spanish/sicklecelldisease.html

MP PRIMARY INSTITUTE URL

National Heart, Lung, and Blood Institute http://www.nhlbi.nih.gov/

notation

C0002895

prefLabel

Sickle Cell Anemia

Related to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002871

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019247

Scope Statement

Sickle cell disease (or sickle cell anemia) causes your body to produce abnormally shaped red blood cells. Learn about symptoms and treatment.https://medlineplus.gov/sicklecelldisease.html

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456603

http://purl.bioontology.org/ontology/MEDLINEPLUS/C2362499

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP56775-7 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/LP56775-7 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU054349 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/MTHU054349 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bmicc.cn/ontology/ICD10CN/D57 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/D000755 Medical Subject Headings / 医学主题词表 CUI
http://purl.obolibrary.org/obo/MONDO_0011382 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0011382 GenEpiO / 基因组流行病学本体 LOOM
http://purl.bioontology.org/ontology/OMIM/141900 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/LNC/MTHU021603 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/MTHU021603 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/OMIM/603903 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 CUI
http://purl.bioontology.org/ontology/OMIM/603903 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/DOID_10923 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_10923 Ontology of Drug Adverse Events / 药物不良反应本体 LOOM
http://purl.obolibrary.org/obo/DOID_10923 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/D57.1 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/D57 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://www.orpha.net/ORDO/Orphanet_232 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/ICD10/D57 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI