Hemoglobin disorders

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. 

It is estimated that one person in 20 carries a mutation that will cause a hemoglobin disorder in a homozy-... 

Pierron H, Gillet R, Perrimond H, Broudeur JC, Soudry G. Yersiniose et dyshemoglobinose. A propos de 4 observations. [Yersinia infection and hemoglobin disorder.Apropos of 4 cases.] Pediatrie 1990 45(6) 379-82. 

Although hemoglobin disorders are extremely diverse, they can be generally classified into two somewhat overlapping groups. 

The term hemoglobinopathies refers to hemoglobin disorders caused by normal synthesis of qualitatively abnormal globin chains. Transcription and translation of mutant genes usually proceed at a normal rate, but the products denature rapidly or function abnormally. 

In this chapter we study the properties and reactions of the carboxylic acids their salts, such as the sodium butyrate used to treat hemoglobin disorders and their derivatives, the esters. We will focus on the importance of these molecules in biological systems, medicine, and the food industry. 

A search for Heinz bodies Is helpful In the detection of an unstable hemoglobin, of a-thalassemia, homozygous 3-thalas-semla and related abnormalities, because hemoglobin often precipitates In the red cells of patients with one of these disorders. Inclusion bodies may consist of precipitated unstable hemoglobin, of 3 chalns (In a-thalassemia), or of a chains (In thalassemia) ... 

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). 

Sickle cells were first identified by physician James Herrick in a 20-year-old medical student from Grenada in 1910.1 O Sickle cell syndrome refers to a collection of autosomal recessive genetic disorders that are characterized by the presence of at least one sickle hemoglobin gene (HbS).2,3... 

MCH Mean corpuscular hemoglobin OCD Obsessive-compulsive disorder... 

Sickle-cell syndrome A group of autosomal recessive genetic disorders characterized by the presence of at least one sickle-hemoglobin gene. 

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... 

Disorders of hemoglobin synthesis Inadequate production of mature RBCs Deficiency of nutrients (B]2, folic acid, iron, protein)... 

Sickle cell syndromes are hereditary disorders characterized by the presence of sickle hemoglobin (HbS) in red blood cells (RBCs). 

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

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