Sickle cell disease is a group of inherited red blood cells disorders. People who have sickle cell disease have an abnormal protein in their red blood cells. In the United States, most people who have sickle cell disease are of African ancestry, but the condition is also common in people with a Hispanic background. Because the disease runs in families, couples planning to have children can have genetic testing. Early signs and symptoms of sickle cell disease include swelling of the hands and feet; symptoms of anemia, including fatigue, or extreme tiredness; and jaundice. Over time, sickle cell disease can lead to complications such as infections, delayed growth, and episodes of pain, called pain crises. Most children who have sickle cell disease are pain-free between crises, but adolescents and adults may also suffer with chronic, ongoing pain. Over a lifetime, sickle cell disease can harm a patient’s spleen, brain, eyes, lungs, liver, heart, kidneys, penis, joints, bones, or skin.   Abstract source

Abnormal hemoglobin, called hemoglobin S, causes sickle cell disease (SCD). The problem in hemoglobin S is caused by a small defect in the gene that directs the production of the beta globin part of hemoglobin. This small defect in the beta globin gene causes a problem in the beta globin part of hemoglobin, changing the way that hemoglobin works. Abstract source

If a person has sickle cell disease (SCD), it is present at birth. But most infants do not have any problems from the disease until they are about 5 or 6 months of age. Every state in the United States, the District of Columbia, and the U.S. territories requires that all newborn babies receive screening for SCD. When a child has SCD, parents are notified before the child has symptoms. Some children with SCD will start to have problems early on, and some later. Early symptoms of SCD may include: Painful swelling of the hands and feet, known as dactylitis Fatigue or fussiness from anemia A yellowish color of the skin, known as jaundice, or whites of the eyes, known as icteris, that occurs when a large number of red cells hemolyze The signs and symptoms of SCD will 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. Abstract source

Sickle cell disease is the most common inherited blood disorder in the United States. Approximately 100,000 Americans have the disease. In the United States, sickle cell disease is most prevalent among African Americans. About one in 12 African Americans and about one in 100 Hispanic Americans carry the sickle cell trait, which means they are carriers of the disease. Sickle cell disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body. Red blood cells with normal hemoglobin (hemoglobin-A) are smooth and round and glide through blood vessels. In people with sickle cell disease, abnormal hemoglobin molecules - hemoglobin S - stick to one another and form long, rod-like structures. These structures cause red blood cells to become stiff, assuming a sickle shape. Their shape causes these red blood cells to pile up, causing blockages and damaging vital organs and tissue. Abstract source

Sickle cell haemoglobin (HbS) results from an autosomal recessively inherited mutation in which the 17th nucleotide of the beta globin gene is changed from thymine to adenine and the amino acid glutamic acid is replaced by valine at position 6 in the beta globin chain.[1, 2]Sickle cells have a reduced deformability and are easily destroyed, causing occlusion of the microcirculation and a chronic haemolytic anaemia with a median haemoglobin concentration level of about 9 g/dL.[3] Sickling disorders include heterozygous (AS) sickle cell trait, homozygous (SS) sickle cell disease, compound heterozygous states for HbS with haemoglobins C, D, E, or other structural variants and the combination of the sickle cell gene with different forms of thalassaemia. Sickle cell disease refers to the group of disorders that affects haemoglobin to form abnormal haemoglobin molecules (HbS). Sickle cell anaemia is the name of the specific form of sickle cell disease in which there is homozygosity for the mutation that causes HbS (ie HBSS). Abstract source

Sickle cell disease is the name for a group of inherited conditions that affect the red blood cells. The most serious type is called sickle cell anaemia. Sickle cell disease mainly affects people of African, Caribbean, Middle Eastern, Eastern Mediterranean and Asian origin. In the UK, it's particularly common in people with an African or Caribbean family background. People with sickle cell disease produce unusually shaped red blood cells that can cause problems because they don't live as long as healthy blood cells and they can become stuck in blood vessels. Sickle cell disease is a serious and lifelong condition, although long-term treatment can help manage many of the problems associated with it. Abstract source

Sickle cell disease is the most common of the hereditary blood disorders. It occurs almost exclusively among black Americans and black Africans. Sickle cell disease in black Americans occurs in about 1 in 500 live births. The first account of what was then called sickle cell anemia in the medical literature was in 1910. James B. Herrick, a Chicago physician, described the symptoms of a 20-year-old black male student from the West Indies. The man had reported "shortness of breath, palpitations, and episodes of icterus [yellow eyes]. He had an anemia." Dr. Herrick described the patient's blood smear as showing "thin, sickle-shaped and crescent-shaped red cells." Red blood cells deliver oxygen to working or active tissues. In the lungs, hemoglobin (the molecule in the red blood cell) takes on oxygen and, at the same time, releases carbon dioxide. This process is called oxygenation. At the tissue level, this activity is reversed. The same hemoglobin molecule releases oxygen and takes on carbon dioxide. This process is called deoxygenation.   Abstract source