Disease Information for Sickle cell/thalassemia disease

Clinical Manifestations
Signs & Symptoms
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
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
Population/Pediatrics population
Family History
Family history/Anemia
Family history/Blood disease
Sex & Age Groups
Laboratory Tests
Microbiology & Serology Findings
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
Bone Marrow/Iron stores normal/anemia
Bone Marrow/Iron stores/increased
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
Aplastic crisis/hematologic
Cerebral vascular accident
CVA Hematologic disorders/Cause
Extramedullary marrow/paraspinal hematopoetic tumor
Mesenteric vein thrombosis
Neonatal hyperbilirubinemia
Priapism/persistent erection
Splenic infarction
Leg ulcers
Iron Overload
Monoarthritis Acute
Disease Synergy - Causes
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
CLASS/Erythrocyte disorder (ex)
CLASS/Hematologic (category)
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Malaria resistant host
PROCESS/Ethnic predilection (ex)
PROCESS/Hemoglobinopathy disorder (ex)
PROCESS/Molecular/hematologic disorder (ex)
Drug Therapy - Indication
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant

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


External Links Related to Sickle cell/thalassemia disease
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)