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- Disease Information
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Disease Information for Sickle cell/thalassemia disease
- Clinical Manifestations
- Signs & Symptoms
- Cyanosis
- Abdominal Pain in Children
- Moro Reflex unilateral Abnormal
- Stroke Syndrome Child
- Cyanosis Newborn
- Arthralgias Polyarthralgias
- Arthritis with Abdominal Pain
- Bone Pains
- Joint Pains
- Joint pains Arthralgias in Children
- Macrocephaly/Large head
- Megalocephaly
- Monoarticular Arthritis in Children
- Monoarticular Arthritis/One joint acute
- Recurrent Hematuria with Air travel
- Fatigue Tiredness in Children
- Clinical Presentation & Variations
- Anemia in Children
- PVT/Anemia in an Infant
- Presentation/Single Joint Arthritis
- Disease Progression
- Course/Chronic disorder
- Demographics & Risk Factors
- Ethnic or Racial Factors
- African black population
- Black/African american population
- Past History
- Past history/Anemia
- Past history/Refractory anemia
- Population Group
- Child
- Population/Pediatrics population
- Family History
- Family history/Anemia
- Family history/Blood disease
- Sex & Age Groups
- Population/Child
- Population/Children/all
- Laboratory Tests
- Microbiology & Serology Findings
- Reticulocytosis
- Abnormal Lab Findings (Non Measured)
- Chorionic Villous Sampling Abnormalities
- Fast-migrating hemoglobin/electrophoresis (Lab)
- Hemoglobin electrophoresis abnormal (Lab)
- Microcytes/small RBCs on Blood smear
- Microcytosis/microcytic anemia (Lab)
- Normocytic anemia
- Normocytic Anemia/High Retic count
- Normocytic/Normochromic Anemia (Lab)
- Abnormal Lab Findings - Decreased
- Hematocrit (Lab)
- Hemoglobin (Lab)
- MCV/Mean Corpuscular Volume (Lab)
- RBC/Red Blood Count (Lab)
- Transferrin (Lab)
- Abnormal Lab Findings - Increased
- Bilirubin, serum (Lab)
- Ferritin, serum (Lab)
- Fetal hemoglobin (Lab)
- Free hemoglobin, plasma (Lab)
- Iron, serum (Lab)
- Platelet count (Lab)
- Poikilocytes (Lab)
- Polychrome RBCs (Lab)
- RDW/Red cell size variance (Lab)
- Reticulocytes (Lab)
- Diagnostic Test Results
- Other Tests & Procedures
- Amniocentesis/Abnormality
- Pathology
- Bone Marrow/Iron stores normal/anemia
- Bone Marrow/Iron stores/increased
- X-RAY
- Xray/Delayed bone age/slow epiphysis closures
- Xray/Skull abnormality
- Associated Diseases & Rule outs
- Rule Outs
- Iron deficiency anemia
- Paroxysmal cold hemoglobinuria
- Associated Disease & Complications
- Anemia
- Aplastic crisis/hematologic
- Bilirubinemia
- Cerebral vascular accident
- CVA Hematologic disorders/Cause
- Extramedullary marrow/paraspinal hematopoetic tumor
- Hypersplenism
- Mesenteric vein thrombosis
- Neonatal hyperbilirubinemia
- Priapism/persistent erection
- Splenic infarction
- Thrombocytosis
- Leg ulcers
- Iron Overload
- Monoarthritis Acute
- Disease Synergy - Causes
- Synergy/Hypoxia
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
- CLASS/Erythrocyte disorder (ex)
- CLASS/Hematologic (category)
- Pathophysiology
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Malaria resistant host
- Process
- PROCESS/Ethnic predilection (ex)
- PROCESS/Hemoglobinopathy disorder (ex)
- PROCESS/Molecular/hematologic disorder (ex)
- Treatment
- Drug Therapy - Indication
- SX/Stem cell transplant/allogenic
- SX/Stem-cell transplant
- Definition
-
Sickle thalassemia disease (hemoglobin S-beta-thalassemia) is a combination of sickle cell trait and beta-thalassemia trait; In beta thalassemia, the amount, rather than the kind, of hemoglobin is abnormal; It is found primarily among people from areas around the Mediterranean Sea -- which is how the disease obtained its name as thalassa is the Greek word for "sea"; Clinically this is often as severe as thalassemia major [homozygous]--------------
Thalassemia is diagnosed using blood tests, including a complete blood count (CBC) and special hemoglobin studies;
A CBC provides information about the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood; People with thalassemia have fewer red blood cells than normal and less hemoglobin than normal in their blood; Carriers of the trait may have slightly small red blood cells as their only sign;
Hemoglobin studies measure the types of hemoglobin in a blood sample; Cooley’s anemia is usually diagnosed in early childhood because of signs and symptoms, including severe anemia; Some people with milder forms of thalassemia may be diagnosed after a routine blood test shows that they have anemia; Doctors suspect thalassemia if a child has anemia and is a member of an ethnic group that is at risk for thalassemia; Family genetic studies are also helpful in diagnosing thalassemia; This involves taking a family history and doing blood tests on family members; Prenatal testing can determine if an unborn baby has thalassemia and how severe it is likely to be----------------[nih website 2006]-----------------Sickle cell disease combination
makes severe disease as thalassemia major; sickle cell disease: A disease usually in blacks characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs; It is the clinical expression of homozygosity for hemoglobin S diagnosed by hemoglobin electrophoresis and characteristic sickling on sicle prep;PCR genetic testing is also used
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- External Links Related to Sickle cell/thalassemia disease
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)