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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A series of 17 cases of gallstones in children observed over a period of 10 years in the area of Marseilles is described and the literature reviewed. The majority of children were girls over 10 years old. Symptoms were constantly present and the disease revealed nine times by acute "mechanical" cholecystitis, compared to 16 infectious cholecystitis followed during the same period, three times by an accident of migration (cholangitis in a 14 years old girl, bile ascitis in two infants). A cholecystography should be performed in acute recurrent abdominal pain of unknown origin in children, gallstones appearing to be radiotransparent in six patients. Among causes of gallstone formation, the authors dig out only 6 hemolytic anemias, related to hemoglobinopathies in three patients, and they emphasize the frequency of idiopathic cholelithiasis which should lead to a more complete investigation of the enterohepatic cycle and chemical constitution of bile in such patients.
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PMID:[A clinical survey on 17 cases of cholelithiasis in childhood (author's transl)]. 22 Jul 27

Cholelithasis was diagnosed in 40 of 100 consecutive patients with sickle cell anemia treated in the emergency room. Incidence apparently was not related to sex or degree of reticulocytosis, but did increase with age and perhaps was greater in patients with lower percentage of hemoglobin F and more complications of their hemoglobinopathy. Cholelithiasis was not unusual in children less than 11 years old. No major surgical complications were noted during 29 elective cholecystectomies, but urgent cholecystectomy, performed for real or suspected acute cholecystitis in seven patients, resulted in multiple major postoperative problems. With the low morbidity of elective procedures, as well as simplification of subsequent abdominal pain crisis management, elective cholecystectomy in patients with stable sickle cell conditions is recommended. Surgery during sickle cell crises or acute cholecystitis, with the attendant increased morbidity, should be avoided.
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PMID:Cholelithiasis in sickle cell anemia: surgical or medical management. 739 90

A case is reported of a previously healthy 52-year-old African American male who presented with acute onset of abdominal pain. Progressive increase in his abdominal symptoms led to an exploratory laparotomy; however, no pathology was discovered. Postoperatively, the patient became hypoxemic which progressed to diffuse infiltrates on chest x-ray, suggestive of adult respiratory distress syndrome. He had a rapidly fatal course. Autopsy showed bone marrow infarction, fat embolism, splenomegaly, and widespread congestion with sickle erythrocytes. Hemoglobin electrophoresis done postmortem showed hemoglobin (Hb) SC disease that was undiagnosed antemortem. To the best of our knowledge, it is unusual for Hb SC to be diagnosed postmortem in adults. This case suggests that sickle cell disorders should be ruled out in patients at risk for hemoglobinopathy in the presence of signs and symptoms compatible with the disease, irrespective of age.
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PMID:Postmortem diagnosis of hemoglobin SC disease complicated by fat embolism. 964 54

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

Renal medullary carcinoma (RMC) is an aggressive neoplasm occurring almost exclusively in adolescents and young adults with sickle cell (SC) hemoglobinopathies, usually sickle cell trait (SCT) or hemoglobin SC disease. The most common presentations are hematuria and flank or abdominal pain. It is a highly malignant tumor, and responses to chemotherapy are rare and transient resulting in a dismal prognosis. A high level of suspicion is necessary when evaluating at risk patients presenting with hematuria or flank pain, as currently it appears that only early diagnosis could potentially alter the outcome of this disease. We report a case of RMC in a young male patient with SCT, who presented to the emergency department with low back pain and microscopic hematuria, clinically mimicking acute obstructing urolithiasis. Our case emphasizes the need to consider alternate diagnoses when evaluating computed tomography scans for acute flank pain.
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PMID:Renal medullary carcinoma: unsuspected diagnosis at stone protocol CT. 1740 14

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

Splenic abscess is an uncommon but potentially life-threatening disease that generally occurs in patients with neoplasia, immunodeficiency, hemoglobinopathies, trauma, metastatic infection, splenic infarction and diabetes. Splenic abscess should be considered in a patient with fever, left upper abdominal pain, and leukocytosis. Splenectomy has been the gold standard treatment for splenic abscess, however, burdened by high morbidity rate related clinical conditions of the patient. With the recent development of minimally invasive techniques and percutaneous US- or CT-guided procedures, the placement of a drainage has achieved excellent results with resolution of the disease in a high percentage of cases with low morbidity and negligible mortality. Percutaneous drainage is indicated for uniloculated or biloculated abscesses and for high risk surgical patients. It is a reliable technique with a high rate of therapeutical success and low costs compared to surgery. Other advantages include avoiding risks of intra-abdominal spillage and perioperative complications and saving time, along with a better patient compliance and an easier nursing care. The authors describe a case of splenic abscess treated by percutaneous US-guided drainage. Our results suggest that ultrasound-guided percutaneous drainage is a safe and feasible alternative to surgery in the treatment of splenic abscesses. In addition, it allows spleen preservation.
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PMID:The role of percutaneous US-guided drainage in the treatment of splenic abscess. Case report and review of the literature. 2261 37

Introduction. The diagnosis of systemic lupus erythematosus (SLE) in patients with sickle cell disease (SCD) can be difficult to establish because the musculoskeletal, central nervous system, and renal manifestations are similar in both diseases. In the presented case, we highlight the diagnostic challenge that can evolve in patients with a concurrence of both diseases and we establish the importance of early recognition and treatment of lupus nephritis in patients with SCD. Case Presentation. We present a case of a 31-year-old African American female with sickle-C disease (hemoglobin SC) who was admitted to our hospital with complaints of periumbilical abdominal pain associated with intractable nausea and vomiting, abdominal distension, and worsening lower extremity edema. Urine studies revealed nephrotic range proteinuria and the immunological investigations were consistent with lupus. A renal biopsy revealed focal proliferative lupus nephritis. Conclusion. It is important to consider the presence of a coexisting autoimmune disease in a patient with sickle hemoglobinopathy who displays an atypical and multisystem presentation that is unresponsive to conventional therapies. When a significant kidney disease is present, a renal biopsy is critical in identifying the etiology of a renal abnormality in the setting of coexisting SLE and SCD.
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PMID:Lupus nephritis in a patient with sickle cell disease. 2431 37

Bone marrow necrosis with subsequent embolization of the fat and necrotic tissues into the systemic circulation causing fat embolism syndrome and multiorgan failure is a rare complication of patients with hemoglobinopathies. The exact etiology of this condition is not known. Because it occurs more often in patients with compound heterozygous conditions than in sickle cell disease, some patients are unaware of their predisposition. The initial symptoms are nonspecific, such as back and/or abdominal pain, fever, and fatigue, which may rapidly progress to respiratory failure and severe neurologic compromise. Common laboratory tests reveal anemia without reticulocytosis, thrombocytopenia, leukoerythroblastic picture with immature white cells and nucleated red blood cells, increased lactate dehydrogenase, high ferritin, and, sometimes increased creatinine. The diagnosis can be delayed because of an apparent lack of awareness about bone marrow necrosis with fat embolism syndrome, its rarity, and its similarities with other conditions such as thrombotic thrombocytopenic purpura. Although a bone marrow biopsy is diagnostic, waiting for it delays definitive treatment, which appears to be essential for the recovery of end-organ damage, such as neurologic and pulmonary damage. In our experience, either multiple units of red blood cell transfusion or, preferably, red cell exchange initiated promptly, is lifesaving.
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PMID:Fat Embolism Syndrome Secondary to Bone Marrow Necrosis in Patients with Hemoglobinopathies. 2759 59

A young man with a rare unstable haemoglobinopathy presented with a high fever, worsening shortness of breath and abdominal pain. At triage his pulse oximetry (SpO2) suggested that his blood oxygen saturation was 84% at room air. However, an arterial blood gas (ABG) oxygen saturation reading (SaO2) was 100%. The significant disparity between the two measurements demonstrates that using pulse oximetry in some unstable haemoglobinopathies may significantly underestimate the actual reading. This error is most probably due to the structural differences in the variant haemoglobin causing light to be absorbed at a different wavelength beyond the normal range of the oximeter. Haemoglobinopathies affect about 7% of the world's population and is often asymptomatic; so, there may be many more undiagnosed cases. Therefore, clinicians may confirm low SpO2 readings with an ABG and, where there is significant disparity with no obvious extrinsic cause, they should consider haemoglobinopathies.
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PMID:Pulse oximetry error in a patient with a Santa Ana haemoglobinopathy. 2759 9


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