SIDEROBLASTIC ANEMIA

Sideroblastic Anemia

Table of Contents

Introduction1

Etiology of the disease2

Clinical signs and symptoms2

Pathogenesis3

Epidemiology4

Diagnostic strategy4

Disease progression5

Treatment and prevention5

Exemplary case investigation data6

Future treatment and diagnosis7

Conclusion7

References8

Sideroblastic Anemia

Introduction

In adult humans, an average of 4 X 1014 hemoglobin molecules is synthesized every second by the bone marrow. Chains of globin (beta) and Heme (alpha) in adults are produced in separated cell compartments known as cytoplasm and mitochondria. These are then integrated into cytoplasm with remarkable precision. This process can, however, give rise to a series of problems such as hemoglobinopathies (sickle cell disease, thalassemia) or porphyrias. In most cases, it may also cause sideroblastic anemias.

Sideroblastic Anemia, also commonly referred to as sideroachrestic anemia, is a disease that affects the bone marrow. Instead of producing the erythrocytes (the red blood cells which are needed by the human body), the bone marrow produces sideroblasts which are circular in shape. This anemia is usually a part of myelodysplastic syndrome. This means that the level of iron utilization in this disease is very high (Camaschella, 2008, p. 27). In most cases, this disease is inherited by a person. However, it is also common for individuals to develop this disease over a period of time.

Primarily, Sideroblastic Anemia is a lab-based diagnosis. It involves an examination of the bone marrow with the aid of a Prussian blue stain. Previous medical history of the patient suffering from the disease, and a physical assessment at the lab, are sufficient to provide the examiner with enough clues to determine the severity of the disease. The workup ideally includes a CBC (Complete Blood Count, iron studies such as TIBC (Total Iron Binding Capacity) and ferritin, and peripheral smear.

Biopsy and bone marrow aspiration are other useful studies that are conducted as deemed appropriate. The paper discusses the Etiology of the disease, Pathogenesis, its clinical signs and symptoms, diagnostic strategy, disease progression, treatment and prevention, exemplary case investigation data and future treatment and diagnosis.

Etiology of the disease

When discussing the Etiology of Sideroblastic Anemia, it is imperative to mention that there are congenital causes of sideroblastic anemia as well as acquired causes. The congenital causes include mutation of d-ALAS, PSU1 and ABC7. DIDMOAD syndrome may be another cause. On the other hand, acquired causes include deficiencies of vitamin B6 and copper in the body, an overdose of zinc, use of alcohol and other addictive drugs, hypothermia and MDS. Some of the drugs other than alcohol that have been found to cause Sideroblastic Anemia are isoniazid, cycloserine, ethanol, and chloramphenicol (Aivado & Gattermann, 2006, p. 40). Some inflammatory diseases have also been linked with Sideroblastic Anemia. Other studies on the aetiology of the disease found its cause in myeloma and lymphoma. While the former is the cancer of the bone marrow, the latter is the cancer of the lymph glands.

Clinical signs and symptoms

Determining the exact cause of Sideroblastic Anemia as well as the diagnosis of the disease is difficult as the symptoms are very common to many other medical conditions. Patients of Sideroblastic Anemia usually have darkened ...