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]

• 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]

• Anemia

  Natural history of sickle cell anemia in Saudi Arabs: a study of 270 subjects. Ann Intern Med. 1978; 88 (1):1–6. [ PubMed ] [ Google Scholar ] 14. Padmos MA, Roberts GT, Sackey K, et al. [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]

  Clinical Scenario A 39 year old man with sickle cell disease presents to the emergency department with a 24hr history of pain in his arms and legs. His pain is consistent with his usual painful crisis. [bestbets.org]

  Painful events were reduced with hydroxyurea, more in patients >15 years old. [miami.pure.elsevier.com]

• 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]

• Cyanotic Congenital Heart Disease

  Staged single-ventricle palliation is used to treat many cyanotic congenital heart diseases. [ncbi.nlm.nih.gov]

• 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. [fda.gov]

  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]

  Common side effects of Endari include constipation, nausea, headache, abdominal pain, cough, pain in the extremities, back pain and chest pain. [fda.gov]

• Left Upper Quadrant Pain

  upper quadrant pain, unexplained fever, or symptomatic splenomegaly. [ncbi.nlm.nih.gov]

• 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]

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]

• Mean Corpuscular Volume Increased

  Mean corpuscular volume increased significantly (+26 fL) without change in hemoglobin concentration (-0.1 g/dL); neutrophils decreased significantly. Percentage of fetal hemoglobin (+8.5%) and percentage of F cells (+35.7%) increased significantly. [ncbi.nlm.nih.gov]

  After 1 year of hydroxyurea treatment, the participants had significant increases in the hemoglobin level (increase of 1.0 g per deciliter; 95% CI, 0.8 to 1.0), the mean corpuscular volume (increase of 13 fl; 95% CI, 12 to 13), and the fetal hemoglobin [doi.org]

• Reticulocytes Increased

  With each course, fetal reticulocytes increased within 48-72 h, peaked in 7-11 d, and fell by 18-21 d. [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]

  Because of the cardiac event and a Tpn I elevation of 5.81 µg/L, cardiology was consulted. EKG revealed sinus rhythm, incomplete right bundle branch block without acute ST elevation. [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]

Effects of hydroxyurea treatment for patients with hemoglobin SC disease. [miami.pure.elsevier.com]

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]

During the treatment phase, 20.6 dose-limiting toxic effects per 100 patient-years occurred, as compared with 20.7 events per 100 patient-years before treatment. [doi.org]

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]

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]

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]

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]

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]

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]

However, data regarding etiologies, risk factors for progression, and likely clinical impact of either simple or exchange transfusion were so lacking as to preclude a realistic study design; an observational study of etiology, management, and outcome [doi.org]

[…] painful crises Blood 2000,1130-1137 Westerman, M Assessment of painful episode frequency in sickle-cell disease American journal of haematology 1997;183-188 Ballas, S et al Hospital readmission for adult acute sickle cell painful episodes: frequency, etiology [bestbets.org]

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]

B.Modell et al., Epidemiology of haemoglobin disorders in Europe: an overview. Scand J Clin Lab Invest. 67, 39 (2007) R. Herklotz et al., Hämoglobinopathien ? Klinik und Diagnostik von Thalassämien und anomalen Hämoglobinen. Therap. [charite.de]

With sickle cell disease (SCD) a consistent underlying cause, we describe the epidemiology of maternal deaths in this population. [doi.org]

Hemoglobin SC Disease Inheritance Hb C Dieases and Trait Symptoms: Hemoglobin C Trait (Hb AC) – no anemia develops (no symptoms) Hemoglobin C Disease (Hb CC) – mild hemolytic anemia, mild spleenomegaly, jaundice and pigmented gallstones might develop Epidemiology [medical-labs.net]

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]

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]

Erythrocytapheresis before G-CSF administration may help prevent these complications. [ncbi.nlm.nih.gov]

Haemoglobin disorders can be effectively reduced through a strategic balance of disease management and prevention programmes. [web.archive.org]

"Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment.6th ed". Wiley-Blackwell. 2010 6th ed. 2. "WHO. [doi.org]

Prevent infection Infection is the leading cause of death in children with SCD. It is very important that children with SCD take penicillin daily to prevent infection. [newbornscreening.info]