Red blood cells disorders

M. O. Arcasoy and P. G. Gallagher Molecular diagnosis of hemoglobinopathies and other red blood cell disorders. Seminars in Hematology 36,328 (1999). 

Steensma DP, Hoyer JD, Fairbanks VF. Hereditary red blood cell disorders in Middle Eastern patients. Mayo Clin Proc 2001 76 285-293. 

The Hippocratic view turns out to be the more correct even from a modern molecular perspective, as follows. Consider the modern evidence about the different red blood cell disorders of favism, sickle cell anemia, thalassemia, all believed to be known (at least to some extent) to the ancient Greeks. The point is that it is impossible to use the notion of bad here for the simple reason that these almost certainly conferred an advantage to survival at some stage in history, and prehistory. 

Red blood cell disorders in Rwandese neonates screening for sickle cell disease and glucose-6-phosphate dehydrogenase deficiency. 

The symptoms of vitamin E deficiency in animals are numerous and vary from species to species (13). Although the deficiency of the vitamin can affect different tissue types such as reproductive, gastrointestinal, vascular, neural, hepatic, and optic in a variety of species such as pigs, rats, mice, dogs, cats, chickens, turkeys, monkeys, and sheep, it is generally found that necrotizing myopathy is relatively common to most species. In humans, vitamin E deficiency can result from poor fat absorption in adults and children. Infants, especially those with low birth weights, typically have a vitamin E deficiency which can easily be corrected by supplements. This deficiency can lead to symptoms such as hemolytic anemia, reduction in red blood cell lifetimes, retinopathy, and neuromuscular disorders. 

Table52-1. Summaryofthecausesofsome important disorders affecting red blood cells.

Figure 52-3. Diagrammatic representation of the major proteins of the membrane of the human red blood cell separated by SDS-PAGE. The bands detected by staining with Coomassie blue are shown in the two left-hand channels, and the glycoproteins detected by staining with periodic acid-Schiff (PAS) reagent are shown in the right-hand channel. (Reproduced, with permission, from Beck WS, Tepper Ri Hemolytic anemias iii membrane disorders, in Hematology, 5th ed. Beck WS [editor]. The MiT Press, 1991.)...

Hereditary elliptocytosis is a genetic disorder that is similar to hereditary spherocytosis except that affected red blood cells assume an elliptic, disk-hke shape, recognizable by microscopy. It is also due to abnormalities in spectrin some cases reflect abnormahties of band 4.1 or of glycophorin C. 

Myeloproliferative disorder A group of diseases of the bone marrow in which excess cells, usually lymphocytes, are produced. Myelosuppression A condition in which bone marrow activity is decreased, resulting in fewer red blood cells, white blood cells, and platelets. Myelosuppression is a side effect of some cancer treatments. Myocardial contractility The force of contraction of the heart during systole. 

Hereditary Nonhemolytic Blood Disorders Associated with Red Blood Cell... 

Hereditary methemoglobinemia is classified into three types a red blood cell type (type I), a generalized type (type II), and a blood cell type (type HI). Enzyme deficiency of type I is limited to red blood cells, and these patients show only the diffuse, persistent, slate-gray cyanosis not associated with cardiac or pulmonary disease. In type II, the enzyme deficiency occurs in all cells, and patients of this type have a severe neurological disorder with mental retardation that predisposes them to early death. Patients with type III show symptoms similar to those of patients with type I. The precise nature of type III is not clear, but decreased enzyme activity is observed in all cells (M9). It is considered that uncomplicated hereditary methemoglobinemia without neurological involvement arises from a defect limited to the soluble cytochrome b5 reductase and that a combined deficiency of both the cytosolic and the microsomal cytochrome b5 reductase occurs in subjects with mental retardation. Up to now, three missense mutations in type I and three missense mutations, two nonsense mutations, two in-frame 3-bp deletions, and one splicing mutation in type n have been identified (M3, M8, M31). 

Hereditary Nonhematologic Disorders That Can Be Diagnosed by the Determination of Red Blood Cell Enzyme Activity... 

Carbonic anhydrase (CA) exists in three known soluble forms in humans. All three isozymes (CA I, CA II, and CA III) are monomeric, zinc metalloenzymes with a molecular weight of approximately 29,000. The enzymes catalyze the reaction for the reversible hydration of C02. The CA I deficiency is known to cause renal tubular acidosis and nerve deafness. Deficiency of CA II produces osteopetrosis, renal tubular acidosis, and cerebral calcification. More than 40 CA II-defi-cient patients with a wide variety of ethnic origins have been reported. Both syndromes are autosomal recessive disorders. Enzymatic confirmation can be made by quantitating the CA I and CA II levels in red blood cells. Normally, CA I and CAII each contribute about 50% of the total activity, and the CAI activity is completely abolished by the addition of sodium iodide in the assay system (S22). The cDNA and genomic DNA for human CA I and II have been isolated and sequenced (B34, M33, V9). Structural gene mutations, such as missense mutation, nonsense... 

Intrinsic factor is produced by the parietal cells. Within the stomach, it combines with vitamin Bu to form a complex necessary for absorption of this vitamin in the ileum of the small intestine. Vitamin B12 is an essential factor in the formation of red blood cells. Individuals unable to produce intrinsic factor cannot absorb vitamin B12 and red blood cell production is impaired. This condition, referred to as Pernicious anemia, occurs as a result of an autoimmune disorder involving destruction of parietal cells. 

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... 

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

The steady-state distribution of lithium has provided some evidence to support this hypothesis. Thus, patients with bipolar illness have higher mean intracellular and extracellular red blood cell to lithium ratios, as do their first-degree relatives ( 73). These findings have led to speculation about genetic control of the lithium ratio and its role in the pathogenesis, as well as pharmacotherapy, of mood disorders. 

---