Hemoglobin H Disease and Getting Benefits
Thalassemia is an inherited (genetic) blood disease. What this means is that the disease is passed down from parents to children through defective (mutated) genes.
Thalassemia causes your body to make less healthy red blood cells and hemoglobin than what your body needs to have. Hemoglobin is an iron-rich protein that is found in your red blood cells. Hemoglobin is the substance that allows your red blood cells to transport oxygen to every area of your body.
Your hemoglobin and Thalassemia
When your hemoglobin is normal, it is referred to as hemoglobin A. Normal hemoglobin has four protein chains. Two of these chains are alpha globin, and two of the chains are beta globin.
There are two major types of thalassemia. They are alpha and beta thalassemia. They are referred to by the defects in these two protein chains.
In order for a sufficient number of alpha globin protein chains to be produced, four genes are needed. Alpha thalassemia is a disease in which one or two of the four genes are missing. The more genes that are not there, the more severe your alpha thalassemia is going to be.
An insufficient amount of oxygen gets to your body’s tissues due to the reduction in the production of hemoglobin that develops with alpha thalassemia. This also causes you to have a shortage of red blood cells (anemia).
What is Hemoglobin H disease?
It is a severe form of alpha thalassemia. Hemoglobin H disease is where you only have one functioning gene for alpha globin.
Hemoglobin H disease is marked by mild to moderate anemia. However, the anemia resulting from hemoglobin H disease can become severe and lead to other difficulties.
As mentioned earlier, hemoglobin H disease is brought about by mutations (defects) in your genes that make hemoglobin. There are four genes that go into the production of your alpha hemoglobin chain. Each one of your parents gives you two of these genes. Hemoglobin H disease develops when you only have one of these genes, or you only have one that is functioning properly.
Symptoms of Hemoglobin H disease
Hemoglobin H disease may not cause you any serious health problems. On the other hand, there are several different signs and symptoms that you may have with this disease. Some of these may include:
- Having small red blood cells
- A reduced red blood cell count
- A yellowish discoloration of your skin (jaundice)
- An increased susceptibility to infection
- Shortness of breath
- Skin that appears pale
- Having dark urine
- An enlarged liver, spleen or abdomen
Tests and Procedures to diagnose hemoglobin H disease
Your doctor will probably ask about your signs and symptoms, do a physical exam and want to know if hemoglobin H disease runs in your family in order to diagnose the disease. There are some diagnostic tests and procedures that your doctor will likely want you to have in order for a diagnosis of hemoglobin H disease to be conclusive. Some of these are:
- A blood sample for laboratory examination
- Hemoglobin electrophoresis
- Mutational analysis
- A complete blood count (CBC)
At this time, there is no cure for hemoglobin H disease. The severity of your disease is what usually determines your treatment options. These may include daily doses of folic acid and blood transfusions when you need them. In extremely serious instances, you may need surgery to remove your spine.
Do you need legal help appealing a disability claim denial for hemoglobin H disease?
Due to hemoglobin H disease and/or complications that have been brought about by it, you may be incapacitated, unable to work and need financial help. You may have applied for Social Security disability benefits or disability benefits from the Social Security Administration. If your application was denied, get help today by completing one of our online case evaluation forms.
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