Sickle Cell Foundation of Oregon

Sickle Cell Education

Hemoglobinopathies

Hemoglobinopathies are conditions that affect the kind and amount of hemoglobin a person has in their red blood cells. (RBCs) and went unreported until the 1870s. Hemoglobin is the part of the red blood cell that carries oxygen throughout the body and gives the red blood cell its color and shape. Sickle cell is the most common hemoglobinopathy affecting 1 in 400 infants or over 80,000 Americans and about 1 in 10 have Sickle cell trait (A/S), called carriers. Over 350 infants die each year due to early diagnosis and treatment.

Sickle Cell Trait (carrier state)

The person who is carrying the defective gene in their system is called a carrier, but also have some normal hemoglobin (HbA) as well. The person with trait is usually without symptoms of the disease, but mild anemia may occur. Under intense, stressful conditions, exhaustion, hypoxia (low oxygen), and/or severe infection, the sickling of the hemoglobin may occur, such as a splenic infarction (sickling in the spleen, perhaps in high altitudes) and result in some complications associated with the sickle cell disease.

Sickle Cell Anemia

Sickle cell is an inherited blood disordera result of both parents being carriers and each giving off the abnormal S gene at the time of conception.Sickle cell disease is very common in the Afro-American population, but frequents people in other ethnic groups or Caucasians with an ethnic background. These ethnic groups include Hispanics, Greeks or those from parts of Asia Minor, Central India, and countries bordering the Caribbean and Mediterranean Seas.

Under certain conditions, the normal round red blood cells, which usually flow fluidly,a crescent or sickled shape,, rigid, and move through the body with stiffness and difficulty. The red blood cells which are shaped like crescents or sickles die off early, (after 10 to 20 days) leaving a shortage of red blood cells to carry an appropriate amount of oxygen to vital organs. Normal cells live about 120 days.

Crisis

Painful episodes are common complications in persons with sickle cell disease and is referred to as a crisis or vaso-occlusion. This results when sickle cells travel through the body, and get stuck when trying to flow through smaller blood vessels which is painful and can lead to severe complications. Vaso-occlusion reduces blood to an area and it can occur in one part of the body such as a finger, the back, the abdomen, arms, ribs, brain, or spleen or other organs individually or throughout the entire body as the same time.

 

Symptoms

Jaundice or yellowing of the skin, eyes and mouth are common signs of sickle cell disease and/or crisis. Any and all major organs are affected by sickle cell disease, including the liver, heart, kidney, gallstone, eyes, bones and joints can suffer damage from the abnormal functioning of the cells and their inability to flow through the small blood vessels easily. As a result, the person may suffer increased infections, leg ulcers, bone damage, early gallstones, eye damage, kidney damage with a loss of body water in the urine. It can also cause priapism (unwanted painful erection) is common among males and if prolonged can result in permanent damage to the tissues and partial or complete impotence and retinopathy. Retinopathy can occur in children with sickle cell disease because the cells can damage blood vessels in the retina and vision can be affected. This is more often in the Sickle C hemoglobin disease.

Acute Chest Syndrome

A common complication of sickle cell disease is the acute chest syndrome which occurs when there is sickling or blockage and breaking down of cells in the chest. This can be life-threatening and often occurs suddenly from infection, fever or dehydration and resembles pneumonia making it difficult sometimes for physicians to identify.

Stroke

A stroke is a sudden and severe complication of sickle cell anemia and most of them occur in between the ages of 5 and 10 years of age. To prevent recurrent strokes, blood transfusions are usually given at 4 to 5 week intervals and medication given to prevent iron overload, which brings its own set of problems.

Splenic Sequestration (pooling)

The spleen is normally a small organ located on the upper left side of the abdomen under the rib cage. When sickle cells are trapped in the blood vessels inside and leading out of the spleen or what we call, pooling, a rises results. This can cause a sudden drop in hemoglobin and can be life-threatening if not treated promptly. This is called sequestration. Any enlargement of the spleen is of concern and must be watched for changes Most children, by the time they are 8 or 9 years of age do not have a functioning spleen, either because of repeated painful episodes of sequestration or because it was surgically removed.

Types of Sickle Cell Disease

There are various forms of sickle cell disease. Sickle cell anemia (S/S) is the most common and most severe form of all. This means the person received an S gene from each parent and will only have the S gene to pass on to their siblings. Bone pain and Chest syndromes are very common in this form of the disease.

Sickle Hemoglobin C Disease

This is a milder form of sickle cell disease as results when a person inherits an S gene from one parent and hemoglobin C from the other parent. This occurs in about 1 in 1,000 Afro-American infants and in this form of the disease we often see the retina affected. Hemoglobin C Trait (A/C) occurs in about 1 in 40 Afro-Americans.

Sickle Beta Zero Thalassemia (STO)

(STO) or Sickle Beta Zero Thalassemia is clinically similar to Sickle cell anemia. STO occurs in approximately 1 in 10,000 Afro-Americans each year and is treated clinically the same as sickle cell anemia. This results when one parent carries the gene for sickle cell and the other parent carries the gene for Thalassemia and each give off the abnormal genes at the time of conception.

Sickle Beta Plus Thalassemia

ST+ or Sickle beta plus Thalassemia is the mildest form of Sickle cell disease. ST+ occurs in approximately 1 in 4,000 Afro-American infants each year. Thalassemia cells are characterized by their small pale cells. Thalassemia is an inherited blood disorder that causes mild or severe anemia (uh-NEE-me-uh). The anemia is due to reduced hemoglobin (HEE-muh-glow-bin) and fewer red blood cells than normal. Hemoglobin is the protein in red blood cells that carries oxygen to all parts of the body. When a person receives a Thalassemia gene and a sickle cell gene, because the S gene changes its shape, it is the S gene that causes the painful sickle cell crises or painful episodes.

Homozygous Hb D disease is a rare disease and usually presents with mild hemolytic anemia and mild to moderate splenic episodes. Heterozygous form of Hb D is clinically silent, but coinheritance of Hb D with Hb S or Thalassemia produces clinically significant conditions like sickle cell anemia and chronic hemolytic anemia of moderate severity. The main differential for homozygous Hb D disease is Hb D-beta zero Thalassemia. Hb D has also been reported to be associated with hematological malignancies.

Sickle Hemoglobin E Disease

Sickle Cell Hemoglobin E Disease is similar to sickle cell C Disease except that an element has been in the hemoglobin molecule. This variation is often also seen in Southeast Asian Populations. Some persons with Hemoglobin E Disease are without symptoms under certain conditions, such as exhaustion, hypoxia, severe infection, and deficiency, some mild to moderate anemia may occur.

While there is presently no cure, there is treatment which will be determined by each person’s physician as they take into consideration your age, health, medical history, allergies, extent of the disease, tolerance for specific medications, procedures and/or therapies. Of course, your opinion and preference will be taken into consideration.

Early diagnosis and prevention of complications is critical, therefore, drinking plenty of water daily (usually 8-10 glasses per day), pain medications where indicated as prescribed by your physicians, including vitamins and folic acid, antibiotics if prescribed, rest and oxygen and blood transfusions when indicated.

Hydroxyurea

This is a medication that has recently been proven helpful in the treatment of Sickle Cell Disease though has been used for cancer for some time. The long-term effects of the medication, is unknown at this time.

Bone Marrow Transplant

There has been some success, but is a serious step and the decision must be made by the patient and the physician.

DISCLAIMER:

The information contained on this web is not intended to replace the advise of a medical genetic professional.

For further information and/or free diagnostic testing, please call (503) 249-1366.