Sickle cell anemia

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.



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Narrow down the case reports



Total: 1207 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(59.7%)
12394969
Sickle cell disease, extreme hyperbilirubinemia, and pericardial tamponade: case report and review of the literature.
Khurshid I, Anderson L, Downie GH, Pape GS.
Crit Care Med. 2002;30(10):2363-7.
Intrahepatic cholestasis Anemia Hepatomegaly Hyperbilirubinemia
Adult Anemia, Sickle Cell Cardiac Tamponade Exchange Transfusion, Whole Blood Homo sapiens Hyperbilirubinemia Intrahepatic Cholestasis Liver Failure Male
2
(58.3%)
1440154
Surgical management of children with hemoglobinopathies.
Ware RE, Filston HC.
Surg Clin North Am. 1992;72(6):1223-36.
Cholelithiasis Anemia Acidosis Sickled erythrocytes
SCN2A
Anemia, Sickle Cell Cardiac Arrest Gall Bladder Diseases Homo sapiens Male Operative Surgical Procedures Respiratory Insufficiency
3
(57.6%)
27366449
Perioperative Anaesthetic Approach in a Homozygous Sickle Cell Anaemia Patient with Frequent Pain Crises.
Tuzcu K, Karcoglu M, Davarc I, Hakimoglu S, Akkucuk S.
Turk J Anaesthesiol Reanim. 2014;42(6):348-51.
Cholelithiasis Hyperbilirubinemia Sickled erythrocytes
4
(57.1%)
19092326
Fever of unclear origin and cytopenia because of acute splenic sequestration in a young immunocompetent carrier of beta-globin mutation for Hb Valletta.
Parrinello G, Torres D, Paterna S, Di Pasquale P, Licata G.
Am J Med Sci. 2008;336(6):508-11.
Hepatosplenomegaly Splenomegaly Anemia Fever
c|SUB|A||C c|SUB|C||G
Abnormal Hemoglobins Adult Anemia Child Fever Hematological Disease Homo sapiens Immunocompetence Male Mutation Spleen beta-Globins
5
(56.2%)
29473172
Ceftriaxone-induced drug reaction mimicking acute splenic sequestration crisis in a child with hemoglobin SC disease.
Van Buren NL, Gorlin JB, Reed RC, Gottschall JL, Nelson SC.
Transfusion. 2018;58(4):879-883.
Splenomegaly Hemolytic anemia Fever
Autoantibodies Child Erythrocytes Fatal Outcome Females Hemoglobin SC Disease Homo sapiens Liver Spleen Splenomegaly
6
(55.5%)
17184440
Tramadol infusion for the pain management in sickle cell disease: a case report.
Erhan E, Inal MT, Aydinok Y, Balkan C, Yegul I.
Paediatr Anaesth. 2007;17(1):84-6.
Splenomegaly Reticulocytosis Fever
Abdominal Pain Analgesics, Non-Narcotic Analgesics, Opioid Anemia, Sickle Cell Child, Preschool Fever Hemoglobin Homo sapiens Leg Male Pain Pain Measurement Red Blood Cell Transfusion Respiratory Tract Infections Reticulocytosis Severity of Illness Index Splenomegaly Vascular Diseases
7
(55.1%)
21792030
Osteomyelitis and pyomyositis due to Pseudomonas aeruginosa in a child with sickle beta⁰-thalassemia.
Krishnamurthy S, Thimmaiah S, Ramesh A, Biswal N, Menon J, Elangovan S.
J Pediatr Hematol Oncol. 2011;33(6):e253-5.
Hepatosplenomegaly Anemia Fever
Anemia, Sickle Cell Anti-Bacterial Agents Child Homo sapiens Male Osteomyelitis Pseudomonas Infections Pseudomonas aeruginosa Pyomyositis Thalassemia
7
(55.1%)
15495257
Sickle cell crisis associated with hemophagocytic lymphohistiocytosis.
Kio E, Onitilo A, Lazarchick J, Hanna M, Brunson C, Chaudhary U.
Am J Hematol. 2004;77(3):229-32.
Hepatosplenomegaly Microcytic anemia Fever
Adult Anemia, Sickle Cell Anti-Bacterial Agents Histiocytosis, Non-Langerhans-Cell Homo sapiens Immunohistochemistry Male
9
(54.5%)
22802871
(3389959)
Tuberculous spondylodiscitis in a patient with a sickle-cell disease: CT findings.
Krupniewski L, Palczewski P, Golbiowski M, Kosinska-Kaczynska K.
Pol J Radiol. 2012;77(1):72-6.
Fever Hepatomegaly Abnormal hemoglobin
10
(54.2%)
26989287
(4764966)
Intracardiac Thrombosis in Sickle Cell Disease.
Nikparvar M, Evazi MR, Eftekhari T, Moosavi F.
Iran J Med Sci. 2016;41(2):150-3.
Jaundice Hemolytic anemia Fever
        

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0004870 Chronic hemolytic anemia Obligate (100%)
HP:0001878 Hemolytic anemia Very frequent (99-80%)
HP:0002719 Recurrent infections Very frequent (99-80%)
HP:0012531 Pain Very frequent (99-80%)
HP:0000939 Osteoporosis Frequent (79-30%)
HP:0001743 Abnormality of the spleen Frequent (79-30%)
HP:0001891 Iron deficiency anemia Frequent (79-30%)
HP:0001894 Thrombocytosis Frequent (79-30%)
HP:0001923 Reticulocytosis Frequent (79-30%)
HP:0001974 Leukocytosis Frequent (79-30%)
HP:0002754 Osteomyelitis Frequent (79-30%)
HP:0010885 Avascular necrosis Frequent (79-30%)
HP:0011981 Pigment gallstones Frequent (79-30%)
HP:0100749 Chest pain Frequent (79-30%)
HP:0000707 Abnormality of the nervous system Occasional (29-5%)
HP:0001396 Cholestasis Occasional (29-5%)
HP:0002597 Abnormality of the vasculature Occasional (29-5%)
HP:0003259 Elevated serum creatinine Occasional (29-5%)
HP:0008282 Unconjugated hyperbilirubinemia Occasional (29-5%)
HP:0011904 Persistence of hemoglobin F Occasional (29-5%)
HP:0012418 Hypoxemia Occasional (29-5%)
HP:0025435 Increased lactate dehydrogenase activity Occasional (29-5%)
HP:0001931 Hypochromic anemia Very rare (4-1%)
HP:0001935 Microcytic anemia Very rare (4-1%)
HP:0005518 Increased mean corpuscular volume Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 313

HPO ID Term # of case reports
HP:0002754 Osteomyelitis 57
HP:0200023 Priapism 54
HP:0001297 Stroke 51
HP:0001903 Anemia 31
HP:0000822 Hypertension 30
HP:0001945 Fever 30
HP:0002027 Abdominal pain 26
HP:0005661 Salmonella osteomyelitis 19
HP:0025615 Abscess 18
HP:0002315 Headache 17
HP:0002090 Pneumonia 16
HP:0031864 Bacteremia 15
HP:0100749 Chest pain 15
HP:0100806 Sepsis 15
HP:0001081 Cholelithiasis 13
HP:0001406 Intrahepatic cholestasis 13
HP:0002138 Subarachnoid hemorrhage 13
HP:0000952 Jaundice 12
HP:0001658 Myocardial infarction 11
HP:0001878 Hemolytic anemia 11
HP:0011902 Abnormal hemoglobin 11
HP:0001909 Leukemia 10
HP:0002099 Asthma 10
HP:0012418 Hypoxemia 10
HP:0000099 Glomerulonephritis 9
HP:0001250 Seizures 9
HP:0001978 Extramedullary hematopoiesis 9
HP:0000100 Nephrotic syndrome 8
HP:0000819 Diabetes mellitus 8
HP:0000969 Edema 8
HP:0001394 Cirrhosis 8
HP:0001746 Asplenia 8
HP:0004870 Chronic hemolytic anemia 8
HP:0000488 Retinopathy 7
HP:0000790 Hematuria 7
HP:0002653 Bone pain 7
HP:0003418 Back pain 7
HP:0012115 Hepatitis 7
HP:0002878 Respiratory failure 6
HP:0002904 Hyperbilirubinemia 6
HP:0012532 Chronic pain 6
HP:0025059 Splenic abscess 6
HP:0100584 Endocarditis 6
HP:0001287 Meningitis 5
HP:0001298 Encephalopathy 5
HP:0001370 Rheumatoid arthritis 5
HP:0001744 Splenomegaly 5
HP:0001941 Acidosis 5
HP:0002098 Respiratory distress 5
HP:0002583 Colitis 5
HP:0000093 Proteinuria 4
HP:0000112 Nephropathy 4
HP:0000246 Sinusitis 4
HP:0001082 Cholecystitis 4
HP:0001369 Arthritis 4
HP:0001695 Cardiac arrest 4
HP:0001873 Thrombocytopenia 4
HP:0001907 Thromboembolism 4
HP:0002113 Pulmonary infiltrates 4
HP:0002140 Ischemic stroke 4
HP:0002204 Pulmonary embolism 4
HP:0002870 Obstructive sleep apnea 4
HP:0003095 Septic arthritis 4
HP:0004444 Spherocytosis 4
HP:0011886 Hyphema 4
HP:0030731 Carcinoma 4
HP:0032169 Severe infection 4
HP:0000083 Renal insufficiency 3
HP:0000520 Proptosis 3
HP:0000541 Retinal detachment 3
HP:0000618 Blindness 3
HP:0000709 Psychosis 3
HP:0000979 Purpura 3
HP:0001635 Congestive heart failure 3
HP:0001944 Dehydration 3
HP:0002094 Dyspnea 3
HP:0002621 Atherosclerosis 3
HP:0002721 Immunodeficiency 3
HP:0002902 Hyponatremia 3
HP:0006562 Viral hepatitis 3
HP:0006859 Posterior leukoencephalopathy 3
HP:0010550 Paraplegia 3
HP:0010566 Hamartoma 3
HP:0011974 Myelofibrosis 3
HP:0025268 Stuttering 3
HP:0030667 Peripheral retinal neovascularization 3
HP:0100658 Cellulitis 3
HP:0000097 Focal segmental glomerulosclerosis 2
HP:0000135 Hypogonadism 2
HP:0000501 Glaucoma 2
HP:0000572 Visual loss 2
HP:0000793 Membranoproliferative glomerulonephritis 2
HP:0001045 Vitiligo 2
HP:0001254 Lethargy 2
HP:0001269 Hemiparesis 2
HP:0001342 Cerebral hemorrhage 2
HP:0001396 Cholestasis 2
HP:0001399 Hepatic failure 2
HP:0001409 Portal hypertension 2
HP:0001433 Hepatosplenomegaly 2
HP:0001681 Angina pectoris 2
HP:0001735 Acute pancreatitis 2
HP:0001750 Single ventricle 2
HP:0001891 Iron deficiency anemia 2
HP:0001919 Acute kidney injury 2
HP:0001954 Recurrent fever 2
HP:0001955 Unexplained fevers 2
HP:0002013 Vomiting 2
HP:0002170 Intracranial hemorrhage 2
HP:0002176 Spinal cord compression 2
HP:0002240 Hepatomegaly 2
HP:0002248 Hematemesis 2
HP:0002301 Hemiplegia 2
HP:0002321 Vertigo 2
HP:0002385 Paraparesis 2
HP:0002617 Dilatation 2
HP:0002625 Deep venous thrombosis 2
HP:0002664 Neoplasm 2
HP:0002716 Lymphadenopathy 2
HP:0002758 Osteoarthritis 2
HP:0003470 Paralysis 2
HP:0004804 Congenital hemolytic anemia 2
HP:0005162 Left ventricular dysfunction 2
HP:0005293 Venous insufficiency 2
HP:0005521 Disseminated intravascular coagulation 2
HP:0006846 Acute encephalopathy 2
HP:0009830 Peripheral neuropathy 2
HP:0012378 Fatigue 2
HP:0020110 Bone fracture 2
HP:0025143 Chills 2
HP:0025342 Central retinal artery occlusion 2
HP:0030242 Portal vein thrombosis 2
HP:0030838 Hip pain 2
HP:0031013 Ankylosis 2
HP:0031273 Shock 2
HP:0031520 Groin pain 2
HP:0031625 Pseudoaneurysm 2
HP:0100523 Liver abscess 2
HP:0000016 Urinary retention 1
HP:0000031 Epididymitis 1
HP:0000103 Polyuria 1
HP:0000105 Enlarged kidney 1
HP:0000124 Renal tubular dysfunction 1
HP:0000141 Amenorrhea 1
HP:0000486 Strabismus 1
HP:0000651 Diplopia 1
HP:0000725 Psychotic episodes 1
HP:0000739 Anxiety 1
HP:0000789 Infertility 1
HP:0000802 Impotence 1
HP:0000821 Hypothyroidism 1
HP:0000823 Delayed puberty 1
HP:0000938 Osteopenia 1
HP:0000939 Osteoporosis 1
HP:0000989 Pruritus 1
HP:0001105 Retinal atrophy 1
HP:0001123 Visual field defect 1
HP:0001138 Optic neuropathy 1
HP:0001508 Failure to thrive 1
HP:0001513 Obesity 1
HP:0001629 Ventricular septal defect 1
HP:0001638 Cardiomyopathy 1
HP:0001640 Cardiomegaly 1
HP:0001648 Cor pulmonale 1
HP:0001649 Tachycardia 1
HP:0001657 Prolonged QT interval 1
HP:0001678 Atrioventricular block 1
HP:0001692 Atrial arrhythmia 1
HP:0001694 Right-to-left shunt 1
HP:0001701 Pericarditis 1
HP:0001733 Pancreatitis 1
HP:0001824 Weight loss 1
HP:0001875 Neutropenia 1
HP:0001876 Pancytopenia 1
HP:0001889 Megaloblastic anemia 1
HP:0001894 Thrombocytosis 1
HP:0001896 Reticulocytopenia 1
HP:0001900 Increased hemoglobin 1
HP:0001923 Reticulocytosis 1
HP:0001927 Acanthocytosis 1
HP:0001959 Polydipsia 1
HP:0001971 Hypersplenism 1
HP:0002014 Diarrhea 1
HP:0002017 Nausea and vomiting 1
HP:0002019 Constipation 1
HP:0002024 Malabsorption 1
HP:0002039 Anorexia 1
HP:0002045 Hypothermia 1
HP:0002047 Malignant hyperthermia 1
HP:0002072 Chorea 1
HP:0002076 Migraine 1
HP:0002093 Respiratory insufficiency 1
HP:0002104 Apnea 1
HP:0002149 Hyperuricemia 1
HP:0002153 Hyperkalemia 1
HP:0002202 Pleural effusion 1
HP:0002318 Cervical myelopathy 1
HP:0002352 Leukoencephalopathy 1
HP:0002381 Aphasia 1
HP:0002427 Motor aphasia 1
HP:0002576 Intussusception 1
HP:0002580 Volvulus 1
HP:0002586 Peritonitis 1
HP:0002588 Duodenal ulcer 1
HP:0002615 Hypotension 1
HP:0002634 Arteriosclerosis 1
HP:0002637 Cerebral ischemia 1
HP:0002650 Scoliosis 1
HP:0002791 Hypoventilation 1
HP:0002797 Osteolysis 1
HP:0002835 Aspiration 1
HP:0002862 Bladder carcinoma 1
HP:0002883 Hyperventilation 1
HP:0002907 Microscopic hematuria 1
HP:0002958 Immune dysregulation 1
HP:0002960 Autoimmunity 1
HP:0003040 Arthropathy 1
HP:0003074 Hyperglycemia 1
HP:0003179 Protrusio acetabuli 1
HP:0003326 Myalgia 1
HP:0003401 Paresthesia 1
HP:0003641 Hemoglobinuria 1
HP:0004377 Hematological neoplasm 1
HP:0004387 Enterocolitis 1
HP:0004395 Malnutrition 1
HP:0004418 Thrombophlebitis 1
HP:0004787 Fulminant hepatitis 1
HP:0004936 Venous thrombosis 1
HP:0004942 Aortic aneurysm 1
HP:0004947 Arteriovenous fistula 1
HP:0005180 Tricuspid regurgitation 1
HP:0005202 Helicobacter pylori infection 1
HP:0005263 Gastritis 1
HP:0005305 Cerebral venous thrombosis 1
HP:0005523 Lymphoproliferative disorder 1
HP:0005535 Exercise-induced hemolysis 1
HP:0005558 Chronic leukemia 1
HP:0005575 Hemolytic-uremic syndrome 1
HP:0006519 Alveolar cell carcinoma 1
HP:0007401 Macular atrophy 1
HP:0007626 Mandibular osteomyelitis 1
HP:0007866 Retinal infarction 1
HP:0007902 Vitreous hemorrhage 1
HP:0008200 Primary hyperparathyroidism 1
HP:0008282 Unconjugated hyperbilirubinemia 1
HP:0008940 Generalized lymphadenopathy 1
HP:0009831 Mononeuropathy 1
HP:0010310 Chylothorax 1
HP:0010535 Sleep apnea 1
HP:0010783 Erythema 1
HP:0011458 Abdominal symptom 1
HP:0011834 Moyamoya phenomenon 1
HP:0011981 Pigment gallstones 1
HP:0012085 Pyuria 1
HP:0012089 Arteritis 1
HP:0012223 Splenic rupture 1
HP:0012230 Rhegmatogenous retinal detachment 1
HP:0012324 Myeloid leukemia 1
HP:0012375 Chemosis 1
HP:0012474 Carotid artery occlusion 1
HP:0012486 Myelitis 1
HP:0012541 Cephalohematoma 1
HP:0012587 Macroscopic hematuria 1
HP:0012593 Nephrotic range proteinuria 1
HP:0012636 Retinal vein occlusion 1
HP:0012653 Status asthmaticus 1
HP:0012735 Cough 1
HP:0025116 Fetal distress 1
HP:0025289 Cervical lymphadenopathy 1
HP:0025326 Retinal arterial occlusion 1
HP:0025439 Pharyngitis 1
HP:0025569 Polypoidal choroidal vasculopathy 1
HP:0025574 Macular hemorrhage 1
HP:0025637 Vasospasm 1
HP:0030049 Brain abscess 1
HP:0030058 Sickled erythrocytes 1
HP:0030149 Cardiogenic shock 1
HP:0030162 Glomerulomegaly 1
HP:0030171 Perirenal hematoma 1
HP:0030243 Hepatic vein thrombosis 1
HP:0030329 Retinal thinning 1
HP:0030834 Shoulder pain 1
HP:0030839 Knee pain 1
HP:0030955 Alcoholism 1
HP:0031352 Chest tightness 1
HP:0031500 Abdominal mass 1
HP:0032043 Odynophagia 1
HP:0032283 Disseminated nontuberculous mycobacterial infection 1
HP:0032366 Positive direct antiglobulin test 1
HP:0040075 Hypopituitarism 1
HP:0040264 Jaw pain 1
HP:0040293 Right hemiplegia 1
HP:0040319 Dark urine 1
HP:0100014 Epiretinal membrane 1
HP:0100026 Arteriovenous malformation 1
HP:0100242 Sarcoma 1
HP:0100537 Fasciitis 1
HP:0100543 Cognitive impairment 1
HP:0100598 Pulmonary edema 1
HP:0100601 Eclampsia 1
HP:0100614 Myositis 1
HP:0100632 Pulmonary sequestration 1
HP:0100646 Thyroiditis 1
HP:0100665 Angioedema 1
HP:0100699 Scarring 1
HP:0100724 Hypercoagulability 1
HP:0100727 Histiocytosis 1
HP:0100758 Gangrene 1
HP:0100769 Synovitis 1
HP:0100820 Glomerulopathy 1
HP:0200026 Ocular pain 1
HP:0200120 Chronic active hepatitis 1
HP:0410019 Epigastric pain 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
HBB hemoglobin subunit beta 3043