Most cases of anemia are caused by dietary iron deficiency. But some forms of anemia are inheritable.
Anemia is a common health condition that can sometimes include relatively concerning symptoms. Feeling tired or short of breath are common symptoms associated with anemia.
If you’re wondering whether or not you have a form of anemia related to your genetics, talking with a family member can be a good start. If a close relative has a genetic type of anemia, you’re also more likely to inherit anemia.
But for most people, anemia is related to nutrient deficiencies — not genetics.
Most forms of anemia are not due to your genetics, but several different types of anemia can be inherited. In most cases, anemia related to your genetics is diagnosed at birth or identified at a young age due to the relatively severe impact it can have on your body.
Several types of anemia can be inherited. The treatment plan and severity of symptoms for these diseases vary. Generally, hereditary anemia symptoms show up in childhood.
Iron-refractory iron-deficiency anemia
There’s one particular case of iron-deficiency anemia caused by genetics.
This is known as iron-refractory iron-deficiency anemia, which results in an iron shortage in your body. For this type of anemia, taking an iron supplement or eating iron-rich foods will not increase your iron levels.
Iron-deficiency anemia doesn’t always result in noticeable symptoms. You may be diagnosed based purely on a laboratory result showing low iron and changes in your red blood cells.
If symptoms do occur, they can be numerous and vague, but there are some telltale signs and symptoms that usually include:
- pale skin
- generalized weakness
- shortness of breath
- feeling lightheaded
- heart palpitations
- inflamed or sore tongue
- cold hands and feet
Sickle cell anemia
As a result, your blood cells take on a crescent shape rather than their usual disc shape. The end result of this structural difference is that your red blood cells clump together more easily.
This can cause serious issues like stroke or eye problems, and the blood cells are destroyed much more rapidly than disc-shaped cells.
Similar to sickle cell disease, thalassemia refers to a group of conditions that affect the hemoglobin protein in specific ways.
Certain thalassemia subtypes, like alpha and beta, are diagnosed based on how the hemoglobin protein is changed. This disorder is usually diagnosed in early childhood due to signs like slow growth or brittle bones.
Some thalassemia types are worse than others and can produce more severe symptoms or require more aggressive treatments.
Hereditary spherocytosis occurs when your red blood cells lose their disc shape, but the reason they lose their shape is different than in thalassemia and sickle cell disease.
Whereas sickle cell and thalassemia result from changes in hemoglobin, spherocytosis results from changes in various other red blood cell proteins like spectrin.
Glucose-6-phosphate dehydrogenase deficiency
Also abbreviated as G6PD deficiency, this disorder results from a missing enzyme that plays an important role in protecting your red blood cells from damage.
Without this enzyme, your red blood cells become susceptible to damage and excessive destruction.
Congenital bone marrow failure
As the name suggests, bone marrow failure occurs when your bone marrow fails to produce enough blood cells. Your bone marrow is where the majority of your blood cells are produced.
There are different types of bone marrow failure, like black-fan diamond and Fanconi, both of which can result in anemia.
Testing for anemia typically begins with a complete blood count and a microscopic examination of those cells. This shows the number and shape of red blood cells in addition to your hemoglobin levels.
If there are any unusual changes in the levels of either, then further testing is pursued.
Specific genetic tests for anemia can also be performed by analyzing cells taken from your:
- mouth or cheek
An analysis of your DNA gathered from these cells can determine whether or not you carry a particular genetic trait that results in red blood cell changes. For example, a genetic test for sickle cell would test for a particular variation of hemoglobin known as hemoglobin S.
Treatment for anemia can range from dietary modifications to surgery. The specific treatment you may need depends on the type of anemia you live with.
Anemia caused by nutrient deficiencies is addressed by correcting the deficiency. This is typically performed by taking vitamin supplements or eating more foods rich in particular nutrients like vitamin B12 or iron.
In conditions like thalassemia and sickle cell disease, aggressive treatments may be needed for severe symptoms. These can include bone marrow transplants or blood transfusions. In some cases, your spleen may be surgically removed to prevent complications.
Anemia related to nutrient deficiencies can be relatively easy to correct. But if a certain type of anemia seems to run in the family, it can be harder to manage due to its relationship to your genetics.
Getting a genetic test for anemia is relatively simple and is the only way to determine whether or not you have an inherited form of anemia. In most cases, this will have already been performed in childhood.