Sideroblastic Anemia Classification

Sideroblastic anemia introduction. Anemia is the general term for several diseases where blood doesn’t carry hemoglobin or oxygen sufficiently. Sideroblastic anemia (D.64) is a rare disease where red blood cells can’t make enough hemoglobin. It can be hereditary or acquired, which means it can be passed down through the genes or the result of poisoning or deficiencies.

What It Is

Hemoglobin is responsible for carrying oxygen in the blood. It gives blood its red color. In sideroblastic anemia, blood cells are smaller and paler than normal blood cells and may be misshapen. They also contain abnormal, purple colored iron granules at their edges called Pappenheimer bodies. These indicate that there’s an iron overload in the cell.

People who have sideroblastic anemia are often tired and irritable, and suffer from vertigo, cold, clammy skin, leg cramps, headaches, and tachycardia. Often, their liver and spleen are enlarged. Iron also concentrates in the mitochondria of red blood cells in abnormal amounts, and brings its own symptoms. These iron-glutted blood cells have nuclei that have a ring around them, and so are called ring sideroblasts. They’re found in the bone marrow. The hereditary form of the disease is gotten through the X chromosome and so can be inherited from either parent, though males are more likely to suffer from this form of anemia. Indeed, nearly all the victims are male. This is because in girls it takes two damaged X chromosomes to cause the disease, and it’s unusual for a girl to inherit two X chromosomes with the mutation. For boys, it only takes one damaged X chromosome to cause the disease.

sideroblastic anemia disease

Sideroblastic Anemia


Sideroblastic anemia comes about because of mutations in genes called ALAS2 and HFE. These mutations are what causes the red blood cells to not make enough hemoglobin for good health. Because of this, the body makes up for the lack of iron by increasing its uptake of iron from the victim’s diet. The iron accumulates in the internal organs and even in the skin. This disorder is called hemochromatosis. Because humans can’t excrete iron fast enough, the iron damages the organs of the body, and may lead to failures of the heart, liver or kidneys. Hemochromatosis is often resolved through regular donations of blood, but people who suffer from sideroblastic anemia probably can’t tolerate this level of blood donation. The ALAS2 combined with the HFE mutations can make the condition of sideroblastic anemia especially severe.

Other causes of sideroblastic anemia are lead poisoning, alcohol poisoning, and deficiencies in copper or Vitamin B6. Vitamin B6 is extraordinary in that it helps the body perform over 100 functions many times a day and acts as a coenzyme, which helps other enzymes do vital work in the cells. One of the things Vitamin B6 does is help form healthy red blood cells, which are lacking in people suffering from sideroblastic anemia.


Sideroblastic anemia can be diagnosed through laboratory findings which can check the level of ferritin. Ferritin is a protein found in cells that stores and then releases iron, and protects against too much and too little iron in the blood. Hematocrit is also tested. Hematocrit is the amount of red blood cells in the blood, besides white blood cells, hemoglobin and platelets. The ability of blood to bind iron to transferrin, and the level of iron in the blood are also among the values measured to determine if the disease is present. Transferrin, like ferritin, also balances the level of iron in the blood. With sideroblastic anemia, transferrin levels are normal or low, but ferritin levels are high.

A blood film, where blood is smeared on a slide, allowed to dry, stained, then examined under a microscope, is also useful in helping to diagnose sideroblastic anemia. Red blood cells taken from the bone marrow and stained with Prussian Blue can also reveal the disease.


Sometimes the only treatment that works with sideroblastic anemia are regular blood transfusions. The drug Deferoxamine is taken afterwards to remove excess iron. Most forms of sideroblastic anemia can be treated more or less successfully with supplementation of Vitamin B6, though the acquired type of the disease isn’t helped by this therapy, and most people only live about ten years after they’re diagnosed. A small percentage of these sufferers go on to develop leukemia.

© 2017 Sideroblastic Anemia Suffusion theme by Sayontan Sinha