Condition Info - BotMed Application

ConditionName

Thalassemia

ConditionDescription

Small RBC cells, but a lot of them

Symptoms

Slow growth in children;
Wide or brittle bones;
Splenomegaly; 
Fatigue;
Weakness;
Pale or yellow skin;
Dark urine;
Poor appetite;
Heart problems;
Jaundice;

PhysicalFindings

ClinicalTests

Microcytic anemia;
Target cells – not specific, can be liver dz;
Normal iron study;
Normal RDW – small but same;

Most accurate test for thalassemia: electrophoresis;

Most accurate test for alpha or beta thalassemia: genetic study;

3 gene deletion alpha has high reticulocytes count;

RiskFactors

IsRedFlag

IsNPLEX

Consequence

Hemochromatosis – if you give them iron;
Liver dz;
Joint pain;
Infertility;
Heart disorders;
Pancreatic disorders;

ProgressionFromCondition

Alpha (4  forms) -don’t make alpha chains – African and Asian;
1 gene – everything is normal, silent carrier. Only DNA test will show problem;
2 genes – mild anemia but very microcytic (very low MCV), increase RBC;
3 genes – severe anemia, very low MCV (HbH dz);

Beta- don’t make beta chains – Mediterranean;
Beta – Minor, 1 gene mutated (now symptoms);

Beta-Major – started after 6 months. Severe anemia, hepatosplenomegaly, jaundice;

TreatmentOptions

Transfusion with iron overload;
All people with Thalassemia major have hemochromatosis and die from liver cirrhosis. To prevent it --> bone marrow transplantation. 
Diagnosed at 6 m old. 
Need  Folic Acid;
T.minor: may not need any treatment

PharmOptions

WebLink

https://www.merckmanuals.com/en-ca/professional/hematology-and-oncology/anemias-caused-by-hemolysis/thalassemias | https://www.aafp.org/pubs/afp/issues/2009/0815/p339.html