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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary stomatocytosis is an autosomal dominant, congenital hemolytic form of anemia, and thromboembolic complications may ensue after a splenectomy is performed in a patient with hereditary stomatocytosis. However, little is known about the relationship between pulmonary hypertension and hereditary stomatocytosis. We describe here a rare case of a patient with hereditary stomatocytosis who developed pulmonary hypertension due to thromboembolic disease after splenectomy. At the first presentation, he was diagnosed with hemolytic anemia, but the cause was unknown, and he was also diagnosed with pulmonary hypertension. Thereafter, we linked his pulmonary hypertension with hemolytic anemia because his red blood cells appeared as leptocytes, acanthytes, and stomatocytes on scanning electron microscopy. It is important to confirm the diagnosis of hemolytic anemia, and splenectomy should be performed with due consideration of whether patients have hemolytic anemia.
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PMID:Pulmonary hypertension after splenectomy in hereditary stomatocytosis. 1623 13

Hereditary stomatocytosis (HSt) is a group of haemolytic anaemias in which the common symptom is an increased permeability of the red cell membrane for monovalent cations. HSt is diagnosed really seldom and the difficulties in diagnosing are connected to the fact that the clinical presentation of individual subtypes of HSt is very diverse. Many cases are characterised by unique phenotypes. Nevertheless, the number of diagnosed HSt cases is increasing each year. The aim of this review was the presentation of current information and an attempt to systematize it, what might be helpful in clinical diagnostic of the new cases of this anaemia. The most frequent mistake is to classify a case of HSt as the most common haemolytic anaemia--hereditary spherocytosis (HS), in which to improve patient condition a splenectomy is often recommended. Most cases of HSt no positive response to splenectomy and often thromboembolic complications are observed. It is interesting that commonly present in blood film stomatocytes and in many cases absent or severely reduced stomatin in HSt red cell membrane are not correlated with nucleotide sequence changes of the gene encoding stomatin. Many diagnosed cases are related to mutations in SLC4A1 and RHAG genes. Extensive research carried out on HSt in the entire world will certainly permit to know the molecular basis of the disease, the diversify of its subtypes and to estimate the real incidence of HSt.
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PMID:[Hereditary stomatocytoses--diagnostic problems and their molecular basis]. 2084 26