Diagnostic Tests for Sickle Cell Disease

Sickle Cell Disease

Sickle Cell Disease is a genetic blood disorder characterized by mutated hemoglobin that causes red blood cells to become “sickle” shaped. These red blood cells stick together and hinder the blood flow and oxygen from reaching all parts of the body. It can create blockage of small blood vessels resulting in pain and organ damaging complications. Regular medical checkups and ongoing management are crucial to prevent further complications.

Submitted by dr.lavleen.hea… on 14 June 2024

Graphic image depicting Sickle Cell Disease with text overlay Tests and Diagnosis

Early diagnosis of Sickle Cell Disease and treatment can reduce the risk of complication. Health care providers will recommend necessary tests based on medical history and physical examination.

Here are the various tests and their role in screening and diagnosis of Sickle Cell Disease.

Hemoglobin Electrophoresis Blood test is done to check if you have sickle hemoglobin and if you are a carrier for sickle cell disease.
Genetic testing is used to identify the specific type of sickle cell disease and determine the number of sickle hemoglobin gene copies.
Prenatal screening is helpful for identifying sickle cell disease before birth. Amniotic fluid or placental tissues are used as samples for this screening.
For determination of sickle cell disease or sickle cell trait immediately after birth, Newborn screening is preferred.

Changed

27/Sep/2024

Community

Care For Rare Disease Circle

Youth Thalassemic Alliance

Condition

Sickle Cell Disease

Stories

Living Well With Sickle Cell Disease

Rajesh Chaudhary, aged 33, is a husband and father who works as a Deputy Mamlatdar in Gujarat. He is a sickle cell warrior and does not allow his condition to limit him from achieving his goals. Diagnosed with sickle cell anemia at the age of 8, he discusses the challenges he has faced due to the condition and how he manages them on a daily basis. Please share your journey which lead to the diagnosis. Even though I lived in an area where sickle cell anemia is common, my parents did not…
Prevention of Sickle Cell Disease

Prevention of Sickle Cell Disease There is no known way to prevent this genetic disease. Avoid consanguineous marriages and encourage blood testing before marriage Screening tests such as Prenatal diagnosis or new born screening can be done to check if baby has sickle cell disease for prompt intervention and treatment. We must keep check on symptoms for sickle cell disease and early diagnosis of it. References Image 1 : https://www.aboutkidshealth.ca/Article?contentid=745&…
Treatment of Sickle Cell Disease

Treatment of sickle cell disease aims to manage symptoms and prevent organ damage. Besides bone marrow transplants that can be curative for some people, there are also emerging gene therapies for sickle cell disease. Pain medications for pain crisis Drinking plenty of water daily (8 to 10 glasses) to manage pain crisis Blood transfusion Vaccinations and antibiotics to prevent infections Folic acid to prevent severe anemia Hydroxyurea helps to reduce the frequency of…
Diagnostic Tests For Sickle Cell Disease

Early diagnosis of Sickle Cell Disease and treatment can reduce the risk of complication. Health care providers will recommend necessary tests based on medical history and physical examination. Here are the various tests and their role in screening and diagnosis of Sickle Cell Disease. Hemoglobin Electrophoresis Blood test is done to check if you have sickle hemoglobin and if you are a carrier for sickle cell disease. Genetic testing is used to identify the specific type of sickle…
Types of Sickle Cell Disease

There are several types of sickle cell diseases, each characterized by different genetic abnormalities. The main types include: Sickle Cell Anemia (SS): Inherited when a child receives two copies of the sickle cell gene from both parents. Common in African and Indian populations. Sickle Hemoglobin-C Disease (SC): Combines hemoglobin C and S. Similar symptoms to sickle cell anemia but less anemia. Common in West African, Mediterranean, and Middle Eastern populations. Sickle Beta-Plus…
Symptoms of Sickle Cell Anemia

Each person with Sickle Cell Disease may experience symptoms differently. List of symptoms include: Fatigue and weakness – Sickle cells have short life and less oxygen carrying capacity compare to normal red blood cells. This can lead to severe anemia, shortness of breath and dizziness. Pain crisis –When sickle cells get stuck in blood vessels due to their sticky property, they block the blood flow. This can result in pain crisis. Generally, pain occurs in chest, arms and legs.…
Causes of Sickle Cell Disease

Causes of Sickle Cell Disease Sickle cell disease is caused by defect in gene and it is passed down from parents to children. The mutations in the beta globin genes affect the structure of hemoglobin molecule (also called as Hemoglobin S.), causing it to form abnormal "sickle" shapes. Figure 2 – How sickle cell disease is inherited? A child will be born with sickle cell disease only if two genes…
Overview of Sickle Cell Disease

Sickle cell disease is an inherited disorder that leads to abnormal hemoglobin. All red blood cells contain hemoglobin, which carries oxygen throughout our body. Normal and healthy red blood cells are round in shape and move through small blood vessels to carry oxygen to all parts of the body. In sickle cell disease, abnormal hemoglobin causes the red blood cells to become sticky and hard and look like a C- shape called “sickle”. Due to this shape and sticky nature, it gets stuck in the…