Here you can find out what the different rare anaemias are and what they entail
Rare types of Anaemia
Think of your red blood cells as the transport system that carries oxygen to your body’s tissues. When you have anemia, your body doesn’t make enough red blood cells, or these cells don’t work as well as they should. You end up feeling weak, tired, and short of breath.
Anemia comes in many forms. Iron-deficiency anemia is most common. Other types of the disease affect only small numbers of people. Here’s a look at some of the rare types of anemia and how they’re treated.
Aplastic (or Hypoplastic) Anemia blood cells are made from stem cells in your bone marrow. When you have aplastic anemia, stem cells in your bone marrow are damaged and can’t make enough new blood cells. You’re either born with aplastic anemia, meaning you inherited a gene from your parents that caused it, or you develop it (acquired). Acquired aplastic anemia is the more common of the two, and sometimes it’s only temporary.
Acquired causes include:
Autoimmune diseases such as:
- Rheumatoid arthritis
Chemicals such as:
- Epstein-Barr virus
- Radiation and chemotherapy treatments for cancer
Inherited conditions such as Fanconi anemia, Shwachman-Diamond syndrome, and Diamond-Blackfan anemia, can damage cells and also cause aplastic anemia.
Symptoms of aplastic anemia can include everything from shortness of breath and dizziness to headaches, pale skin, chest pain, fast heart rate (tachycardia), and cold hands and feet.
One way to treat aplastic anemia is with a blood transfusion. You’ll get a donor’s blood through a vein. A stem cell transplant can also treat aplastic anemia. It replaces the damaged stem cells in your bone marrow with healthy cells.
In this group of blood disorders, your body can't use iron to make hemoglobin -- the protein that carries oxygen in your blood. The iron buildup causes the formation of abnormal red blood cells called sideroblasts.
There are two main types of sideroblastic anemia:
Acquired sideroblastic anemia can be caused by exposure to certain chemicals or drugs.
Hereditary sideroblastic anemia happens when a gene mutation disrupts normal hemoglobin production. This gene produces “heme,” the part of hemoglobin that carries oxygen.
Symptoms for both types include:
- Chest pain
- Fast heartbeat, or tachycardia
- Trouble breathing
- Weakness and fatigue
Treatment for sideroblastic anemia depends on the cause. If you have acquired anemia, you'll need to avoid the chemical or drug that caused it. Other treatments include vitamin B6 therapy and bone marrow or stem cell transplants.
Myelodysplastic syndromes (MDS) are diseases that are caused when your bone marrow is damaged and can't make enough healthy blood cells. MDS is a type of cancer. Some people are born with a gene that causes MDS. These genes are usually passed down from one or both parents. If you have certain inherited syndromes, including Fanconi anemia, Shwachman-Diamond syndrome, Diamond Blackfan anemia, familial platelet disorder, and severe congenital neutropenia, you could be more likely to develop MDS.
A small number of people also get MDS after radiation or chemotherapy treatment for cancer. Another risk is exposure to chemicals like benzene, which is found in tobacco smoke.
Some people don’t have symptoms with MDS, but others do, including:
- Bruising or bleeding
- Shortness of breath
- Weakness and fatigue
- Weight loss
Oncologists (cancer doctors) and hematologists (blood doctors) treat MDS with chemotherapy, hematopoietic growth factors, and stem cell or bone marrow transplants
Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia happens when your body's immune system attacks and destroys red blood cells faster than it can make new ones.
If you have an autoimmune disease like lupus, you’re also more likely to get this type of anemia. Medicines such as methyldopa (Aldomet), penicillin, and quinine (Qualaquin) can also cause autoimmune hemolytic anemia.
- pale skin
- fast heartbeat (tachycardia)
- trouble breathing
- chills, backache
- yellow skin (jaundice).
Treating the disease that caused the anemia can also stop your red blood cell damage. If you have an autoimmune disease, your doctor might treat you with steroid drugs to calm your immune system, which can help the anemia.
Congenital Dyserythropoietic Anemia (CDA)
CDA is a group of inherited anemias that reduce the number of healthy red blood cells in the body. All CDAs are passed down through families.
There are three types of CDA, types 1, 2, and 3. Type 2 is the most common and type 3 is the rarest. Symptoms include chronic anemia, fatigue, yellow skin and eyes (jaundice), pale skin, and missing fingers and toes at birth.
Some people never need treatment. But depending on the severity of the disease, your doctor might recommend a blood transfusion, a stem cell transplant, or medicines to lower iron levels or interferon alfa-2A, a drug typically used for treating leukemia and melanoma.
If you have Diamond-Blackfan anemia, your bone marrow doesn't make enough red blood cells. Doctors think it is caused by changes to your genes.
Symptoms of Diamond-Blackfan anemia include:
- Fast heartbeat (tachycardia)
- Heart murmur
- Pale skin
- Short height
- Weak bones
Treatments include everything from steroids that can help produce more red blood cells to red blood cell transfusions and bone marrow transplants.
With this type of anemia, your bone marrow produces abnormally structured red blood cells that are too large and too young. Because they’re not mature or healthy, they can't carry oxygen throughout your body very well.
Megaloblastic anemia is caused by too little vitamin B12 (cobalamin) or vitamin B9 (folate). Your body needs these vitamins to make red blood cells.
Some people with megaloblastic anemia might not have symptoms for many years. But once symptoms do appear, they’re similar to other types of anemia, and include Dizziness and fatigue
- Diarrhea, nausea
- Fast or irregular heartbeat (tachycardia)
- Muscle pain or weakness
- Pale skin
- Trouble breathing
Doctors treat megaloblastic anemia with vitamin B9 and vitamin B12 supplements to replace what your body is missing. You'll also need treatment for any disease -- such as Crohn's -- that caused your body to lack these vitamins.
Fanconi anemia makes your blood marrow produce too few blood cells. It's hereditary, meaning it’s passed down from one of your parents through a gene mutation.
Symptoms and physical traits of Fanconi anemia include:
- Abnormal thumbs
- Easy bruising and bleeding
- Frequent infections
- Heart, kidney, and bone problems
- Skin color changes
- Small body, head, and eyes
If you have Fanconi anemia, you’re more likely to get a type of cancer called acute myeloid leukemia, or AML. Your odds of getting cancers of the head, neck, skin, GI tract, or genitals also go up.
Treatment depends on several factors, including what stage it’s in and the severity of physical complications. Treatments include hormone therapy and growth factors to boost blood cell growth.
If symptoms become severe, your doctor might recommend a bone marrow stem cell transplant. Oftentimes a bone marrow transplant can cure the problems altogether.
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