Stomatocytosis II (or dehydrated hereditary stomatocytosis [DHSt]) is a rare disease that begins within the weeks before or after birth. At birth, someone with DHSt will have a swollen body. This will usually go away within the first few weeks of life. DHSt causes red blood cells (RBCs) to have less water in them than they should. RBCs carry oxygen from the lungs to the rest of the body. RBCs have a balance of sodium and potassium. In DHSt, too much potassium flows out of the red blood cells, causing an imbalance. This causes the cells to not keep enough water inside of them, and the cells become unhealthy and break.
Unhealthy RBCs cannot deliver oxygen from the lungs to the body. This is known as hemolytic anemia. Hemolytic anemia can cause a person to feel grumpy, tired, dizzy, and weak. It can also cause headaches, trouble focusing, pale skin, dry nails, a sore tongue, and a blue color in the whites of the eyes.
DHSt causes iron overload, meaning you absorb too much iron from food. This makes a person feel tired and weak and can cause liver disease, darker skin, joint pain, diabetes, reproductive problems, heart disease, and thyroid disease.
People with DHSt sometimes have a large spleen. The spleen and liver are two organs in the body that break down old, unhealthy red blood cells.
DHSt is passed down from parent to child. Every person has two copies of each gene, one from each parent. DHSt is inherited in an autosomal dominant pattern. This means that only one mutation from one parent needs to be inherited by a child in order to cause symptoms.
A person can be diagnosed with DHSt by blood tests. A person with DHSt will be treated for hemolytic anemia and iron overload. If you or a family member has been diagnosed with DHSt, talk to your doctor about the most current treatment options. Support groups are also good sources of support and information.