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This condition is called sickle cell anemia disease.

Other names:

Sickle cell disease

Sickle cell anemia

Hemoglobin S disease

Hemoglobin SS disease

Sickling disorder due to hemoglobin S

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Sickle cell anemia is caused by a point mutation in the hemoglobin gene, located on the eleventh chromosome. This abnormal gene then causes red blood cells to become misshapen, sticky, and rigid. Sickle cell anemia can't be detected by an abnormal karyotype, since it's a single gene disorder, or a disorder that only affects one gene.

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Yes, prenatal tests for sickle cell anemia are possible, in the form of either chorionic villus sampling (CVS), which is possible at 10-12 weeks of pregnancy, or amniocentesis (amnio), which is possible at 15-20 weeks of pregnancy. CVS involves checking tissues from the placenta for birth defects or gentic conditions. Amnio involves checking amniotic fluid from the amniotic sac around the baby.

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To be affected by sickle cell anemia, you have to get the defective form of the gene from both parents. If only one of the parents carries the defective form, the child will have the sickle cell trait. People with the sickle cell trait will produce both normal and sickled blood cells, and they typically don't have symptoms. However, thay are a carrier and can pass the gene on to their children.

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Other Names for Sickle Cell Disease? | HOA - Hematology-Oncology Associates of CNY (hoacny.com)

Sickle cell anemia - Symptoms and causes - Mayo Clinic

What Is and Isn’t a Chromosome Abnormality? : chromosome18

Sickle cell disease and pregnancy | March of Dimes

Causes of Sickle Cell Disease - Sickle Cell Disease News (sicklecellanemianews.com)

What is Sickle Cell Disease? | CDC

Global Impact of SCD | NotAloneInSickleCell.com

Data & Statistics on Sickle Cell Disease | CDC

Sickle cell anemia in African Americans: Symptoms, causes, and more (medicalnewstoday.com)

Sickle cell disease - Treatment - NHS (www.nhs.uk)

Sickle Cell Disease - Hematology.org

Prognosis of Sickle Cell Disease - Sickle Cell Disease News (sicklecellanemianews.com)

Sickle Cell Disease (clevelandclinic.org)

Longevity for those with Sickle Cell Disease Linked to Care Maintenance, Family Involvement - Hematology.org

Updates from NIH’s sickle cell disease scientists | NIH MedlinePlus Magazine

Sickle Cell Disease Research & Care | NHLBI, NIH

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Sickle cell anemia comes with several effects and symptoms. One of them is blocked blood flow, due to the irregularly shaped blood cells.  Sickled cells also die early; a normal cell will last for about 120 days, while a sickled cell only lasts for about 10-20 days.  Both these issues leave a shortage of healthy red blood cells to carry oxygen through the body, which causes anemia, frequent infections, vision problems, delayed growth, acute chest syndrome, strokes, and, most notably, severe episodes of pain, called pain crises. Some with the condition will experience mild symtoms, while some experience symptoms so severe they may require hospitalization.

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It's estimated that about 100,000 Americans are affected by sickle cell disease, and about 3.4 million worldwide. Sickle cell disease is more common in certain ethnic groups, such as people of African descent; Hispanic Americans from South and Central America; and people of Indian, Asian, Mediterranean, and Middle Eastern descent. Scientists believe this may be because sickle cell disease/trait is an evolutionary trait that people develeoped as a defense to malaria, since these are regions where malaria is common. However, sickle cell can affect anyone, not only those from these ethnicities.

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People with sickle cell anemia have a shorter life expectancy. The national median life expentancy of a person with sickle cell disease is 42-47 years. However, increased technology for treatments have improved survival rates and the quality of patients' lives. People with mild symptoms have lived past the life expectancy though, with proper management of the disease and a healthy lifestyle. One woman with sickle cell anemia lived until the age of 95!

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The only cure for sickle cell disease are stem cell or bone marrow transplants. However, they're rarely done because they invlove many risks. The transfusion involves removing or destroying the stem cells that characterize sickle cell (by medication or radiation) and then transfusing healthy stem cells, which then travel to the bone marrow and produce healthy red blood cells. One of the numerous risks of this is that the new, healthy stem cells start attacking the body's other cells. This is called graft versus host disease. There are several treatment options outside of this though, that can help one to live with this disease. These can include medications, blood transfusions, pain relievers, and more. Healthy habits can also be helpful in coping with the condition, such as exercising, staying hydrated, avoiding/limiting alchohol, quitting smoking, sleeping enough, and eating a healthy diet.

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Gene therapy is being tested currently to treat sickle cell disease. This would involve taking out a person's stem cells from marrow or peripheral blood, and insterting a normal hemoglobin gene. Then, the person would recieve chemotherapy before putting those cells back in the body. So far, the early data is promising!

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A few support groups include:

American Sickle Anemia Association
--Link: American Sickle Cell Anemia Association | United Way Agency (ascaa.org)
--Description: The American Sickle Cell Anemia Association is a comprehensive health organization whose mission is to connect with families inspiring hope and improving their quality of life ultimately working to create a world without sickle cell disease.

Sickle Cell Disease Association of America
--Link: Home - Sickle Cell Disease Association of America Inc.
--Description: Mission--
To advocate for people affected by sickle cell conditions and empower community-based organizations to maximize quality of life and raise public consciousness while advancing the search for a universal cure.

Sickle Cell Disease Coalition
--Link: Sickle Cell Disease Coalition (scdcoalition.org)
--Description: The Sickle Cell Disease Coalition (SCDC) was formed to amplify the voice of the sickle cell disease (SCD) stakeholder community to improve outcomes for individuals with SCD. Its membership includes public health, research, and provider organizations, patient groups, faith-based organizations, federal agencies*, industry representatives, and foundations.

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This was my karyotype, which had no mutation. Sickle cell anemia cannot be detected by a karyotype, because it's a single gene disorder. It only affects one gene--the hemoglobin gene, located on chromosome 11.