Disease Information for Sickle cell/thalassemia disease

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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
Google
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)
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