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]

Therefore, the present study is an attempt in this direction. The present study attempts to evaluate varied manifestations of SCD in a tertiary care center in north India, which is a nonendemic belt. [doi.org]

• 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]

  In the United States, it's estimated that sickle cell anemia affects 70,000–100,000 people, mainly African Americans. The most common signs and symptoms of sickle cell anemia are linked to anemia and pain. [web.archive.org]

  anemia is a disease in which your body produces abnormally shaped red blood cells. [icd9data.com]

  Sickle cell anemia, hereditary disease that destroys red blood cells by causing them to take on a rigid “sickle” shape. [britannica.com]

• 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]

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

  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]

• Fatigue

  People who have sickle cell disease may also have trouble coping with pain and fatigue, as well as with frequent medical visits and hospitalizations. [nhlbi.nih.gov]

• Sepsis

  Sepsis and pneumonia should raise suspicion for an underlying immune deficit, especially given the atrophic spleen on imaging. [jscimedcentral.com]

  Common infections include pneumonia, bronchitis, cholecystitis, pyelonephritis, cystitis, osteomyelitis, meningitis, and sepsis. Pneumococcal sepsis continues to be a major cause of death in infants in some countries. [emedicine.com]

• Pallor

  ASS: Inquire about noticeable increase in weakness or pallor, syncope, and sudden abdominal distention. [web.archive.org]

  Pallor formed the most important sign seen in 85.7% [Table 3] of these children. Joint swelling formed a predominant manifestation seen in 60.7%. [doi.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]

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

• Thrombosis

  It has been shown that sickle cell patients have a higher prevalence of pulmonary thrombosis but not deep vein thrombosis compared to age- and race-matched controls, suggesting that pulmonary thrombosis occurs as a primary rather than secondary embolic [ncbi.nlm.nih.gov]

  Abstracts of papers presented at the annual general meeting of the British Society for Haemostasis and Thrombosis 87,Suppl.1=1; 93,Suppl.2=2 von: European Hematology Association: Abstracts of papers presented at the ... meeting of the European Haematology [zdb-katalog.de]

  This supports the view that hemolysis-related vasculopathy is a rare event and that pathological processes could involve hyperviscosity and thrombosis. [haematologica.org]

  The latter may play a role as a contributor to thrombosis, acting as a catalyst for plasma clotting factors. Membrane rigidity can be reversed in vitro by replacing HbS with HbA, suggesting that HbS interacts with the cell membrane. [emedicine.com]

• Heart Disease

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

  Schulman LN, Braunwald E, Rosenthal DS (1997) Hematological–oncological disorders and heart disease. In: Braunwald E (ed) Heart disease: a textbook of cardiovascular medicine, 5th edn. Saunders, Philadelphia, pp 1787–1788 Google Scholar 18. [link.springer.com]

  Heart disease People who have sickle cell disease can have problems with blood vessels in the heart and with heart function. The heart can become larger than normal. People who have sickle cell disease can also develop pulmonary hypertension. [nhlbi.nih.gov]

• Hypotension

  The pathogenesis of SCI can be explained by 2 general mechanisms” arterial blood supply to the spinal cord can become compromised due to mechanical obstruction of blood vessels or secondary to severe hypotension. [pediatrics.aappublications.org]

  […] analgesics (type and dose, if possible) and folic acid Surgical history (helps rule out other causes of abdominal pain) Previous hemoglobin levels and previous transfusions Vaccination Consanguinity, family history of similar episodes Physical Vital signs Hypotension [web.archive.org]

  No side-effect was reported except for 3 cases of reversible hypotension. Venous access was the main recurrent problem encountered in daily practice. Table 3. Prevalence of renal involvement in HbSC and SCA patients. [haematologica.org]

• Hepatomegaly

  Symptoms involved bone or joint pains in 72% of the patients, while 59% presented hepatomegaly and 50% splenomegaly. Mean hemoglobin level was 10.6 g/dl, erythrocyte count, 3.9 X 10(6)/mm3, and serum bilirubin, 1.4 g/dl. [ncbi.nlm.nih.gov]

  Hepatomegaly was seen in 28.6% of the subjects. On evaluation of the hematological parameters, hemoglobin of SCD constitutes amongst the commonest of the hemoglobinopathies, reported from the Indian subcontinent with varied incidence. [doi.org]

  […] following factors with the log-rank test 22 : the patient's age and sex, the donor's sex, the genotypes of both patient and donor, the number of transfusions received, the incidence of red-cell alloimmunization, previous chelation therapy, the presence of hepatomegaly [dx.doi.org]

• 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]

• Enlargement of the Liver

  Other symptoms of sickle cell anemia include fever; pain in hands, feet and joints; shortness of breath; pneumonia-like symptoms; dizziness; headache; sores on the legs and an enlarged spleen or liver. [msdh.ms.gov]

• 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]

• Streptococcus Pneumoniae

  Seven serious bacterial infections occurred in four of the patients, five due to Streptococcus pneumoniae and two to Haemophilus influenzae. A primary focus of infection was present in all episodes, none of which proved fatal. [ncbi.nlm.nih.gov]

  Immunization with broadly polyvalent vaccines against Streptococcus pneumoniae, Haemophilus influenzae type b, and Neisseria meningitidis may ultimately represent the most effective way to reduce the incidence of catastrophic infections. [doi.org]

  Failure of opsonization and an inability to deal with infective encapsulated microorganisms, particularly Streptococcus pneumoniae, ensue, leading to an increased risk of sepsis in the future. [emedicine.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]

In this paper, the etiology, diagnosis, treatment, and prevention of clinical stroke, as well as so-called “silent stroke,” are examined. [doi.org]

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]

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]

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]

Clinical epidemiology of sickle cell disease in Saudi Arabia The clinical manifestations of SCD are unpredictable and variable. [doi.org]

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]

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]

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