Feature Articles

Hereditary Causes of Anemia

July 23, 2009

Healthy and sickle cell

Other times, anemia can be caused by a hereditary condition that occurs because of small variations in a patient’s genes. Genes are located in every cell and are instructions that your cells follow to complete different processes that take place in the human body. Each person receives a copy of genes from their parents and sometimes variations or flaws in the genes can be passed along as well. In this case, some very specific flaws that are inherited from your parents can lead to anemia.

Making Red Blood Cells

Like many processes in the human body, making new red blood cells is very complicated with many steps. Because it is so complex, there are many things that can go wrong. When something in the process of making new red blood cells (called erythropoiesis) goes wrong, a patient can develop anemia.

How your body uses the iron and vitamins it acquires from food is also an important aspect of making red blood cells. When the body cannot absorb iron or certain vitamins properly or is unable to incorporate them into hemoglobin, red blood cells may not be created fast enough or created at all. Hemoglobin is the iron-rich protein in red blood cells that carries oxygen from the lungs to all parts of the body. Also, doctors determine if a patient is anemic by measuring their hemoglobin level.

What is Anemia?

These articles explain how anemia can develop, list related symptoms and provide advice for talking with your doctor.

Man falling asleep at a meeting

Anemia Symptoms and Resources

Anemia is a condition that can make you feel tired, fatigued, weak, dizzy, irritable, short of breath or depressed. With anemia, you may also have pale skin, brittle nails, chest pain, a coldness in your hands or feet, or a rapid heartbeat. Some people with anemia also have a desire to eat ice or other peculiar things, experience sexual dysfunction, or have trouble concentrating or performing mental tasks.

We focus on anemia that is caused by iron deficiency, vitamin deficiency, aging, surgery or by acquired chronic conditions like cancer, diabetes, inflammatory bowel disease, kidney disease, heart disease, hepatitis C, HIV/AIDS, and rheumatoid arthritis. These types of anemia are known as iron deficiency anemia, vitamin deficiency anemia and anemia of chronic disease. There are numerous resources devoted to these types of anemia, including basic education in our Information Handouts, Anemia FAQs, and Symptoms Quiz. For a more in-depth look at anemia as it relates to specific conditions, check out some of the other Feature Articles.

Several other organizations listed in our More Health Resources section deal with many types of anemia that are caused by hereditary conditions. Some of these hereditary conditions are briefly described below.

Hereditary Conditions Causing Anemia

Certain hereditary variations in a person’s genes can lead to incorrect or decreased production of red blood cells. This can cause red blood cells to not last as long in the blood, not be as effective transporting oxygen from the lungs to different parts of the body, or not be created at all. Listed below are some hereditary conditions that cause anemia through various genetic mechanisms.

Sickle Cell Anemia is a disease where the body makes red blood cells that are shaped like a crescent moon or the letter “C” when they are depleted of oxygen. These abnormally-shaped cells do not flow as well through the circulatory system and last for only 10-20 days compared to about 120 days for healthy, normal-shaped red blood cells. The body continually makes new red blood cells, but anemia develops because sickle cells do not last very long. Sickle cell disease affects 72,000 people in the United States and is most common in people of African descent.1

Thalassemia is a condition where the body does not properly construct one of the proteins needed to make hemoglobin. Moderate to severe anemia can occur if one of these proteins is defective or missing. Hemoglobin is located in red blood cells and transports oxygen from the lungs to muscles and organs throughout the body. Thalassemia can be treated with transfusions and iron chelation therapy and may be curable with a bone marrow transplant.2

Fanconi Anemia is a condition in which the bone marrow can fail to produce red blood cells, white blood cells and platelets. The lack of enough red blood cells will lead to anemia, but can be treated with a bone marrow transplant. These patients are also often born with a variety of other genetic defects and are also very susceptible to developing cancer, including acute myelogenous leukemia (AML), head and neck, esophageal, gastrointestinal, vulvar and anal cancers. Diagnosis of Fanconi Anemia normally occurs in children 10-15 years old, but may be first recognized in adults.3

Diamond Blackfan anemia is a condition in which the bone marrow fails to produce enough red blood cells. The condition usually develops at an early age, with most patients being diagnosed within the first year of life. Several types of facial or physical abnormalities can also be present in patients with the condition. Diamond Blackfan anemia is also referred to as congenital pure red cell aplasia, congenital hypoplastic anemia and Aase syndrome.4

Shwachman Diamond syndrome is a rare condition affecting the digestive enzymes in the pancreas and the creation of blood cells in the bone marrow. Decreased red blood cell production and white blood cell production can lead to anemia and recurrent infections, respectively. Infants four to six months often begin to show symptoms, including feeding problems and slowed growth. The pancreatic aspects of the condition are similar to cystic fibrosis and it is usually diagnosed within the first few years of life.5

Red cell membrane disorders can cause instability in cellular structure, resulting in abnormally shaped red blood cells. The most common form is hereditary spherocytosis. Characterized by round or sphere-shaped red blood cells, hereditary spherocytosis is the most common inherited anemia in people of northern European descent.6 Hereditary elliptocytosis, a different form which can vary widely in severity, causes patients to have a large number of oval or elliptical-shaped red blood cells. This form is common in people of African and Mediterranean descent.6 Hereditary stomatocytosis is a third form of these disorders that can cause patients to have mouth-shaped red blood cells which do not properly transport sodium and potassium in and out of the cell. Some patients with these membrane disorders may not have noticeable symptoms.6

G6PD deficiency is a hereditary condition in which the body cannot produce enough glucose-6-phosphate dehydrogenase (G6PD), an important enzyme that protects red blood cells from destruction by certain chemicals or drugs. G6PD deficiency is the most common enzyme deficiency in the world, affecting more than 400 million people usually of African, Asian, Mediterranean or Middle-Eastern descent. Patients with this condition often develop anemia that is triggered by an infection or an exposure to toxins, drugs or chemicals.7,8

Hereditary hemorrhagic telangiectasia is a condition where patients are predisposed to bleeding at places where their arteries and veins are improperly connected. Due to significant blood loss or reoccurring bleeding, often from the stomach or intestines, patients can develop anemia.9

More Health Resources: Groups with Hereditary Focus
  • Cooley's Anemia Foundation
  • Daniella Maria Arturi Foundation
  • Diamond Blackfan Anemia Foundation
  • Fanconi Anemia Research Fund, Inc.
  • Hereditary Hemorrhagic Telangiectasia Foundation International
  • Iron Disorders Institute
  • Shwachman-Diamond Syndrome Foundation
  • Sickle Cell Disease Association of America
  • Sickle Cell Society
  • Thalassaemia International Federation
  • The American Sickle Cell Anemia Association

Additional Hereditary Conditions

Although this article listed some of the more common hereditary conditions that can lead to anemia, patients with any condition which can decrease the function of the bone marrow, red blood cell production or the ability of the digestive system to absorb vitamin B12 or iron are at-risk of developing anemia. Other notable conditions and classes of conditions which can affect patients in this manner include dyskeratosis congenita, congenital dyserythropoietic anemias, and congenital B12 malabsorption syndromes.

Although not a cause of anemia, hemochromatosis is an iron-related hereditary condition in which the body absorbs more iron from the food than it needs. Because there is no way for the body to get rid of the excess iron, it is stored in various organs like the liver, heart and pancreas. If untreated, the increasing levels of stored iron can cause organs to become diseased. Also known as iron overload disease, hemochromatosis is one of the most common genetic disorders in the United States.10 The Iron Disorders Institute, which specializes in hemochromatosis, is the spotlight organization for the July 2009 issue of Anemia Watch.

Screening and Treatment of Hereditary Anemias

Because hereditary anemia is determined by the make-up of your genes, there are various ways in which your doctor can detect if you have one of these genetic variations. The presence of anemia, as determined by a below normal hemoglobin level, is one important indicator that you may have a hereditary or chronic condition that causes anemia. These methods of detection are usually referred to as genetic screening tests and involve precise analysis of the structure of your genes, but are not available yet for all hereditary anemias. To help your doctor diagnose your anemia, be sure to tell him or her if your family has a history of any of the hereditary conditions listed above. This history can indicate if you are at-risk for carrying one of the genetic variations which can cause anemia.

There are many different types of treatment for hereditary anemias which counteract the body’s inability to sustain healthy levels of red blood cells and minimize the anemia-related symptoms patients often experience. If you are diagnosed with a hereditary anemia, close communication with your doctor will help him or her provide additional information and the treatment that is best for you based on what is causing the anemia.

To find out more about screening methods, treatments and patient support groups, browse the different organizations listed in the More Health Resources page which specialize in these hereditary conditions.

References

  1. American Sickle Cell Anemia Association. FAQ: How common is Sickle Cell Anemia? Link. Accessed: July 12, 2009.
  2. National Heart Lung and Blood Institute. Diseases and Conditions Index: Thalassemias. Link. Accessed: June 25, 2009.
  3. National Cancer Institute. Inherited Bone Marrow Failure Syndromes: Fanconi Anemia. Link. Accessed: June 25, 2009.
  4. Diamond Blackfan Anemia Foundation, Inc. About DBA: What is Diamond Blackfan Anemia? Link. Accessed: July 16, 2009.
  5. Shwachman-Diamond Syndrome Foundation. Understanding SDS. Link. Accessed: July 16, 2009.
  6. Gallagher PG. Red cell membrane disorders. Hematology Am Soc Hematol Educ Program. 2005:13-18. Link.
  7. Frank JE. Diagnosis and management of G6PD deficiency. American Family Physician. 2005 Oct 1.72(7)1277-82. Link.
  8. Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008 Jan 5;371(9606):64-74. Link.
  9. HHT Foundation International, Inc. About HHT. Link. Accessed: July 15, 2009.
  10. MedlinePlus. Health Topics: Hemochromatosis. Link. Accessed: June 25, 2009.