Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hemoglobinopathy S, Depranocytosis or Sickle Cell Disease is the most common hemoglobinopathy in the world. In its heterozygous form (Sickle Cell Trait), it affects 8% of the black population in the U.S. and 25% of the black population in Africa, and is found less frequently in the Mediterranean area, India, Middle East and Latin America. The basic alteration is a substitution of glutamic acid by valin in the sixth position of the beta globin chain, which causes polymerization at low oxygen tension thereby distorting the structure of erythrocytes and increasing blood viscosity, which, in turn, generates obstructions of the capillary arterial blood flow to different areas of the body thus causing microinfarctions. Although Splenic Infarction is rare, it is recognized as a serious complication of Heterozygous Sickle Cell Disease (Sickle Cell Trait). We present the case of a 21 year-old mestizo male patient who came in with an acute case of abdominal pain after arriving to work in the Casapalca mining city (located in the Peruvian Andes at 4200 m.a.s.l.) and was referred to our Hospital in Lima for exams. We present the case because it is an unusual cause of acute abdominal pain, and because this condition is rare in Peru and there are few publications about it.
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PMID:[Acute abdominal pain due to splenic infarction in a patient with heterozygous sickle cell disease exposed to high altitude]. 1721 89

A 29-year-old African woman without any history of diseases was referred to our clinic because of recurrent abdominal pain. 6 weeks earlier she had delivered a healthy baby. Laboratory data revealed hypochromic microcytic anemia, elevated cholestatic liver enzymes, and an elevated bilirubin level of 2.2 mg/dl. Abdominal sonography showed choledocholithiasis. The endoscopic retrograde cholangiography showed the presence of more than 100 small stones in the intra- and extrahepatic bile ducts. An endoscopic papillotomy was performed and multiple small black stones were removed from the bile duct by basket into the duodenum. Because of the hypochromic microcytic anemia, the detection of pigment stones and the ethnic background of the patient we suspected a hemoglobinopathy. Hemoglobin electrophoresis showed 97 % HbC. The molecular genetic analysis revealed a homozygous mutation in codon 6 GAG > AAG for the beta globin chain (HbCC). HbC is a structurally abnormal hemoglobin with typical aggregates and tetragonal crystal formation which results in mild chronic hemolytic anemia. The cholezystectomy after 6 weeks was performed without complications.
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PMID:["Endoscopy in a stone quarry"--multiple pigment stones 6 weeks after delivery]. 2022 94