Edit concept Question Editor Create issue ticket

Hemoglobin SC Disease

HbSC Disease


Presentation

  • The main complaint at presentation was bone or joint pains. Symptoms involved bone or joint pains in 72% of the patients, while 59% presented hepatomegaly and 50% splenomegaly.[ncbi.nlm.nih.gov]
Anemia
  • Hydroxyurea has been extensively used in patients with sickle cell anemia and severe sickle cell-hemoglobin C (SC) disease to reduce the severity of their diseases.[ncbi.nlm.nih.gov]
Pain
  • Our patient no longer requires narcotic analgesics for pain, has resolution of constitutional symptoms, and has not required further hospitalizations for vaso-occlusive pain crises.[ncbi.nlm.nih.gov]
Family History of Anemia
  • At a Glance A family history of anemia in the absence of iron deficiency should prompt consideration of a hemoglobinopathy, and a number of these appear in the differential diagnosis. Hemoglobin C is an inherited mutation in the ß-globin gene.[cancertherapyadvisor.com]
Localized Pain
  • Vaso-occlusive crises can range in severity from localized pain to acute chest syndrome and myocardial infarction. These crises are usually brought on by stressors that induce hypothermia, hypoxia or acidosis, such as surgery [1].[ncbi.nlm.nih.gov]
Constitutional Symptom
  • Our patient no longer requires narcotic analgesics for pain, has resolution of constitutional symptoms, and has not required further hospitalizations for vaso-occlusive pain crises.[ncbi.nlm.nih.gov]
Splenomegaly
  • We report here our experience with an adult patient with severe SC disease who developed symptomatic splenomegaly requiring splenectomy while being treated with hydroxyurea.[ncbi.nlm.nih.gov]
  • Homozygous hemoglobin C disease is generally a benign condition associated with mild hemolytic anemia and splenomegaly.[nejm.org]
Nausea
  • After surgery, the patient’s pain improved and he experienced resolution of nausea. The patient was vaccinated against S. pneumoniae, N. meningitides, and H. influenza per CDC guidelines.[eposters.net]
  • You should get medical care right away if you have A sudden high fever A severe headache A stiff neck Nausea or vomiting Early treatment can help prevent serious problems, including death.[nlm.nih.gov]
  • Common side effects of Endari include constipation, nausea, headache, abdominal pain, cough, pain in the extremities, back pain and chest pain.[web.archive.org]
  • When symptoms develop, they may include: Nausea Right-side upper belly pain Vomiting If problems continue or recur, a person may need surgery to remove the gallbladder.[nhlbi.nih.gov]
Abdominal Pain
  • We present a case of fulminant ASSC in an adult with hemoglobin SC who developed high fever, intense abdominal pain, leukocytosis, and jaundice.[ncbi.nlm.nih.gov]
  • pain, moderate splenomegaly; unique to SC disease is an risk of retinal disease–proliferative retinopathy, retinal vascular disease, aseptic necrosis of femoral head, acute chest syndrome after fat embolism due to bone infarction.[medical-dictionary.thefreedictionary.com]
  • Currently, there are no established guidelines delineating when surgical splenectomy is necessary; however, it has been used in situations including persistent abdominal pain or fever, unresponsiveness to transfusion, and recurrent ASSC.[eposters.net]
  • Common side effects of Endari include constipation, nausea, headache, abdominal pain, cough, pain in the extremities, back pain and chest pain.[web.archive.org]
Left Upper Quadrant Pain
Macula
  • A 33-year-old black woman with hemoglobin SC disease and a history of photocoagulation for peripherally located retinal neovascularization had a neovascular frond at the temporal border of her right macula.[ncbi.nlm.nih.gov]
Arthralgia
  • According to family, she complained of severe arthralgias in her hands and knees for the prior 2 days. Physical examination revealed an obese woman who was unresponsive to verbal stimulus.[cp.neurology.org]
  • Fatigue, dyspnea on effort, attacks of mild jaundice (this patient has laboratory features of hemolysis), and arthralgias are seen. Life expectancy is usually only slightly shortened.[path.upmc.edu]

Workup

  • Some of the most common causes of nontraumatic spinal cord injury in pediatrics include autoimmune, hypercoagulable, and infections etiologies, necessitating a broad workup.[pediatrics.aappublications.org]
  • A complete cardiac and neurologic workup, including fasting lipids, serial troponins, and EEG is mandatory.[jscimedcentral.com]
Reticulocytes Increased
  • With each course, fetal reticulocytes increased within 48-72 h, peaked in 7-11 d, and fell by 18-21 d. In patient I, fetal reticulocytes increased from 16.0 /- 2.0% to peaks of 37.7 /- 1.2, 40.0 /- 2.0, and 32.0 /- 1.4% in three successive courses.[doi.org]
ST Elevation
  • She had typical chest pain for myocardial ischemia, associated with ST elevations on the electrocardiogram (EKG) and elevations of cardiac injury markers diagnostic of infarction.[ncbi.nlm.nih.gov]
  • EKG revealed sinus rhythm, incomplete right bundle branch block without acute ST elevation. Transthoracic echocardiogram (TTE) was normal with an ejection fraction of 65%. The Tpn I elevation was assessed to be related to CPR.[jscimedcentral.com]
Right Bundle Branch Block
  • EKG revealed sinus rhythm, incomplete right bundle branch block without acute ST elevation. Transthoracic echocardiogram (TTE) was normal with an ejection fraction of 65%. The Tpn I elevation was assessed to be related to CPR.[jscimedcentral.com]
Incomplete Right Bundle Branch Block
  • EKG revealed sinus rhythm, incomplete right bundle branch block without acute ST elevation. Transthoracic echocardiogram (TTE) was normal with an ejection fraction of 65%. The Tpn I elevation was assessed to be related to CPR.[jscimedcentral.com]
Normal Electrocardiogram
  • To further assess the PEA arrest, a nuclear (Tc-99m) adenosine stress test and myocardial perfusion study was performed, demonstrating normal hemodynamics and normal electrocardiogram.[jscimedcentral.com]

Treatment

  • To date, only 5 publications have reported short-term, incomplete, or conflicting laboratory and clinical outcomes of hydroxyurea treatment in a total of 71 adults and children with HbSC.[ncbi.nlm.nih.gov]
  • Effects of hydroxyurea treatment for patients with hemoglobin SC disease . American Journal of Hematology , 91 (2), 238-242.[miami.pure.elsevier.com]

Prognosis

  • Despite these problems, the prognosis is generally good Hb C Disease may lower the red blood cell count and make the body susceptible to opportunistic infections, which could further lead to more severe hemolytic anemia Additional and Relevant Useful[dovemed.com]
  • Prognosis The prognosis is difficult to predict. Serious VOA or organ failure can be a cause of death. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • It is associated with a poorer prognosis. Hemoglobin SD, hemoglobin SE, and hemoglobin SO These types of sickle cell disease are more rare and usually don’t have severe symptoms.[healthline.com]
  • These data suggest that prognosis for lifetime severe SS is initially manifested as an increased risk of septicemia during childhood. Citing Literature Number of times cited according to CrossRef: 39 A. Raffetin, G. Melica, E. Audureau, A.[doi.org]
  • Folic acid supplementation may help produce normal red blood cells and improve the symptoms of anemia [7] Prognosis [ edit ] Overall, hemoglobin C disease is one of the more benign hemoglobinopathies . [5] Mild-to-moderate reduction in RBC lifespan may[en.wikipedia.org]

Etiology

  • Careful evaluation of CBCs and peripheral blood smears is required in cases of worsening anemia among sickle cell patients and consideration should be given to cold hemagglutinin disease as an etiology.[ncbi.nlm.nih.gov]
  • Etiology Sickle cell anemia is determined by combinations of two abnormal alleles of the beta globin gene among which at least one carries the beta 6 glu-val mutation (Hb S).[orpha.net]
  • (Etiology) Genetic mutations are said to cause Hemoglobin C Disease.[dovemed.com]
  • Some of the most common causes of nontraumatic spinal cord injury in pediatrics include autoimmune, hypercoagulable, and infections etiologies, necessitating a broad workup.[pediatrics.aappublications.org]

Epidemiology

  • Abstract Although the epidemiology and pathophysiology of serious bacterial infection in homozygous sickle cell anemia (SS disease) have become increasingly well understood, information about infection risk and splenic reticuloendothelial function in[ncbi.nlm.nih.gov]
  • Summary Epidemiology The prevalence of sickle cell carriers in 25 European states is estimated at about 1/150.[orpha.net]
  • With sickle cell disease (SCD) a consistent underlying cause, we describe the epidemiology of maternal deaths in this population.[doi.org]
  • Epidemiology Given the proposed survival advantage conferred by Hb C against malaria, it is not surprising that Hb C appears to have originated on the west coast of Africa.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • There seem to be pathophysiological correlations for the observed clinical findings, and there are potential beneficial effects of partial exchange transfusion.[ncbi.nlm.nih.gov]
  • Several pathophysiologi-cal explanations have been proposed for the different phenotypes encountered in sickle cell disease, involving noteworthy viscosity or hemolysis mechanisms. 18 , 33 , 34 A high erythrocyte turnover, and its consequences on anemia[haematologica.org]
  • Gladwin, Intravascular hemolysis and the pathophysiology of sickle cell disease, Journal of Clinical Investigation, 10.1172/JCI89741, 127, 3, (750-760), (2017) ., (2017) ., (2017) ., (2017).[doi.org]

Prevention

  • Erythrocytapheresis before G-CSF administration may help prevent these complications.[ncbi.nlm.nih.gov]
  • Currently there are no specific methods or guidelines to prevent Hemoglobin C Disease genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may[dovemed.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!