Hereditary spherocytosis

Article Abstract:

A 28-year-old woman was found to have an abnormal appearance of her red blood cells when peripheral blood smears were examined by microscope. The patient had undergone the removal of her spleen (splenectomy) at six years of age. Her medical records indicated that she had severe jaundice at birth and had her blood volume exchanged. Her records also indicated a period of severe anemia (too few red blood cells) at age six for which she was evaluated. A diagnosis of hereditary spherocytosis was made at that time and she was treated by splenectomy. Hereditary spherocytosis is a generic name for a group of inherited diseases in which red blood cells (erythrocytes) show abnormal anatomy and are easily broken because of abnormalities in their cell membranes. The condition was first described more than 100 years ago in a Belgian family when their physician noted an unusual spheroidal shape to their red blood cells. Approximately one in 500 individuals of European origin have this condition and its clinical picture is so distinct as to make the condition easy to diagnose. Tests for the fragility of red blood cell membranes are done be exposing cells to osmotic stress; placing them in solutions containing different amounts of salt and measuring the degree of swelling that occurs before the cells burst. The degree of osmotic fragility is correlated with the clinical severity of the disease. The normal red blood cell is a biconcave disk (imaging a round balloon pushed at its middle between a thumb and forefinger) which results from an excess of cell surface membrane. This allows the red blood cell to deform and squeeze through very small spaces which are only a fraction of its stretched-out diameter. This membrane is formed by a group of structural proteins, particularly spectrin. In hereditary spherocytosis, mutations have been found in the genes which control the production of alpha-spectrin. The patient presented in this case was found to have two different abnormalities in her alpha-spectrin proteins and most probably two different mutations. Splenectomy is the most common treatment, and its use is discussed and explained.

Causes of, Surgery, Spleen, Spherocytosis, Hereditary, Hereditary spherocytosis

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White sponge nevus

Article Abstract:

A 34-year-old woman was diagnosed with a rare, benign hereditary skin condition called white sponge nevus, which is characterized by thickened, white skin with a spongelike texture. The lesion was located on the vaginal mucous membranes, and was at first incorrectly diagnosed as human papillomavirus infection. Because of this diagnosis, the patient underwent treatment with the carbon dioxide laser to remove affected tissue. However, the area did not heal, and the woman complained of pain during intercourse. Further examination showed that the labia minora (part of the female genitals) were swollen and that the surface had become whitened. Evaluation of biopsy specimens and the discovery of similar lesions in the patient's mouth, with reports of the same type of lesion in the mouths of her father and sister, led to the diagnosis of white sponge nevus. The condition is inherited. A description is provided of the appearance of this nevus and of other diseases with which it may be confused. The condition, while benign, causes problems and has no recognized treatment. (Consumer Summary produced by Reliance Medical Information, Inc.)

Vaginal diseases, Mouth diseases

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Hereditary hemochromatosis

Article Abstract:

A 44-year-old man with pain in his shoulder and finger, decreased libido and infertility was diagnosed with hemochromatosis. Hereditary hemochromatosis is one of the most commonly occurring genetic diseases among whites. It results from the over-absorption of iron in the intestines. Excess iron then accumulates in body tissues over many years and damages them. It is difficult to diagnose, and often severe liver or heart damage has already developed by the time treatment is initiated. Two of the more common physical signs of hemochromatosis are enlargement of the liver and increased skin pigmentation. Patients with suspected hemochromatosis should have a liver biopsy after blood tests are performed. Relatives of patients with diagnosed hemochromatosis should be screened. A new form of hemochromatosis that apparently results from drinking iron-rich beer has been observed among Africans.

Hemochromatosis

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