What is Hemoglobinuria?
Hemoglobinuria is a pathological condition of the hematologic system in which there is presence of hemoglobin in the urine. To understand the condition better, hemoglobin is a molecule that is attached to the red blood cells and facilitates smooth movement of oxygen and carbon dioxide throughout the body. On an average, the red blood cells or the RBC break down into different parts every 120 days and make way for formation of new red blood cells. This normally takes place in the spleen, bone marrow, or liver. If there is any abnormality in this process then the levels of hemoglobin rises significantly in the blood to an extent that it starts to appear in the urine. This is what is termed as Hemoglobinuria.
This condition is quite rare and usually is caused due to defective genes. Hemoglobinuria can affect an individual ta any age, although it is not a condition which an individual is born with. This is quite a serious condition; however, there are different treatments available which help control the symptoms and make the patient feel better and lead a normal life and also prevent complications due to Hemoglobinuria. The severity of this condition is quite variable and differs from individual to individual. Some people may have mild case of Hemoglobinuria whereas some may have it in the severe form, which puts them at risk for having blood clots.
What Are The Causes Of Hemoglobinuria?
Hemoglobinuria is basically caused due to certain defects in the gene but it is not an inherited condition and it is not passed by a parent to the offspring. This abnormal gene mutation causes the body to make abnormal RBCs, which do not have the proteins to protect them from the immune system of the body and hence they are broken down. This process is called as hemolysis. Some researchers believe that Hemoglobinuria can also be caused due to a weak bone marrow. People most at risk for developing Hemoglobinuria are those with a condition called as aplastic anemia.
What Are The Symptoms Of Hemoglobinuria?
The classic presenting symptom of Hemoglobinuria is the presence of blood in the urine. Some of the other symptoms of Hemoglobinuria are:
- Feeling of tiredness and weakness
- Persistent headaches
- Shortness of breath
- Irregular heartbeats
- Stomach pain
- Jaundiced skin
- Easy bruising.
How Is Hemoglobinuria Diagnosed?
In order to diagnose Hemoglobinuria, the doctor will begin the investigations by asking the patient the following questions:
- Has the patient noticed any blood in the urine?
- Whether the patient is taking any sort of medications?
- Has the patient experienced or observed any signs or symptoms of blood clots?
- Has the patient experienced any digestive problems or pain in the stomach or belly?
- Whether the patient has a prior history of anemia or any disorder of the bone marrow?
Once these questions are answered, the doctor will then order routine blood tests to check for the level of red blood cells. Apart from this, a test called as flow cytometry may also be performed, which will check whether the red blood cells have the necessary proteins to prevent it from breaking down. The doctor will also order tests to check for iron levels. A sample of the bone marrow may also be taken to check the status of the bone marrow.
These above tests are confirmatory enough to give a definitive diagnosis of Hemoglobinuria.
How Is Hemoglobinuria Treated?
Apart from a stem cell transplant there is not clear cut cure for Hemoglobinuria and majority of the treatments are aimed for controlling the symptoms and preventing any future complications. The treatment depends on the severity of the symptoms and how advanced the disease process is. Some of the treatments for Hemoglobinuria are:
Folic acid to allow the bone marrow to produce more normal blood cells
Iron supplements to facilitate more production of RBCs.
Blood transfusions Treatment for Hemoglobinuria: This is basically done to treat symptoms of anemia and to get the hemoglobin levels to normal
Blood thinners: The use of blood thinners like warfarin will help prevention of a clot which quite a possibility in advanced cases of Hemoglobinuria
Eculizumab: This is the only medication approved by the FDA for treatment of Hemoglobinuria. This medication prevents breakdown of red blood cells. It also helps with the symptoms of anemia which occur concurrently with Hemoglobinuria.
Bone Marrow/Stem Cell Transplant: This is perhaps the best and sure shot treatment for Hemoglobinuria. For this, the patient will need a healthy first degree relative to donate stem cells and replace them with the stem cells present in the bone marrow of the patient. This will allow normal production of red blood cells in the body and get rid of Hemoglobinuria. Since this procedure carries a lot of risk, hence this is done only in young people with severe forms of Hemoglobinuria.