Hemoglobin, inherited disorders

O Sickle cell disease is an inherited disorder caused by a defect in the gene for hemoglobin. Patients may have one defective gene (sickle cell trait) or two defective genes (sickle cell disease). 

Summary Thalassemias as a group are the most common genetic diseases in the world. Beta thalassemia is an inherited blood disorder in which the body produces an abnormal form of hemoglobin. The disorder results in excessive destruction of red blood cells, which in a severe form manifests as life-shortening anemia shortly after birth. Short-chain fatty acids had previously been shown to be useful in the... 

Hemoglobinopathies A group of inherited disorders characterized by structural alterations within the hemoglobin molecule, [nih]... 

SECTION 28.3 Inherited Disorders of Hemoglobin Structure and Synthesis... 

Thalassemia— Any of a group of inherited disorders of hemoglobin metabolism in which there is impaired synthesis of one or more of the pol5q>eptide chains of globin. 

Iron Fe Anemia. General weakness Hemochromatosis, an inherited disorder that causes the body to absorb and store too much iron, especially in liver, heart, and pancreas Iron is a component in hemoglobin and enzymes important for the respiratory function... 

Certain mutant hemoglobins are common in many populations, and a patient may inherit more than one type. Hemoglobin disorders thus present a complex pattern of clinical phenotypes. The use of DNA probes for their diagnosis is considered in Chapter 40. 

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