Untitled Quiz

Study Notes

Alpha thalassemia results from deletions of one or more alpha globin genes.
High prevalence in Asian populations, including Thailand, Vietnam, Cambodia, Indonesia, Laos, and among Saudi Arabians and Filipinos.
Bart’s Hydrops Fetalis:
- Complete absence of alpha globin chains.
- No Hgb A or Hgb F; most severe form.
- Formation of Hgb Bart’s (γ4), incompatible with life, often leading to stillbirth.
Hemoglobin H Disease:
- Caused by deletion of three alpha genes.
- Hgb H (β4) forms; 5%-40% of hemoglobin.
- Features high reticulocytes, MCV > 60 fL, symptoms like anemia and splenomegaly.
- Red blood cells show inclusions resembling pitted golf balls when stained.
Alpha Thalassemia Trait:
- Two functional alpha genes; mild anemia present.
- Clinical traits include 5%-10% Hgb Bart’s and presence of elliptocytes and target cells.
Silent Carrier:
- Three functional alpha genes; hematologically normal.
- MCV is normal or slightly microcytic with few elliptocytes and target cells.

Beta Thalassemia Major (Cooley's Anemia):
- Homozygous condition resulting in minimal beta globin synthesis.
- Symptoms appear around 2-4 years, including failure to thrive and severe anemia.
- Clinical findings include Hgb 6-9 g/dL, target cells, and Howell-Jolly bodies.
- Treatment options: blood transfusions, splenectomy, bone marrow transplant, stem cell transplant.
Beta Thalassemia Intermedia:
- A less severe form developing later in life, characterized by larger spleens and mild bone changes.
- Minimal or no need for transfusions.
Beta Thalassemia Trait (Minor):
- One abnormal beta gene inherited; mimics iron deficiency anemia except with increased RBC count.
- Findings may include basophilic stippling, target cells, and low Hgb levels.

Megaloblastic Anemia:
- Caused by deficient vitamin B12 and folic acid, leading to impaired DNA synthesis.
- CBC shows high MCV (100-140 fL), increased RDW, and low reticulocyte count.
Clinical Symptoms:
- Symptoms include shortness of breath, pallor, glossitis, neurologic issues (numbness, balance difficulties), and potential personality changes.
Diagnosis:
- Peripheral smear shows macrocytes, macro-ovalocytes, and hypersegmented neutrophils (>6 lobes).
Folic Acid:
- Found in green leafy vegetables and fruits; depletion can occur within months.
- Plays a critical role in DNA synthesis through conversion of homocysteine to methionine.

Commonly found in Northern Europeans, characterized by defects in membrane proteins such as spectrin and ankyrin.
Clinical Symptoms:
- Anemia, jaundice, splenomegaly, and cholelithiasis (gallstones).
Laboratory Findings:
- Increased bilirubin, reticulocyte count (3%-10%), and spherocytes prevalent in 97% of cases.
- Normal MCV with increased MCHC (>36%) in some patients, slightly elevated RDW.
Osmotic Fragility Test:
- Used to confirm the diagnosis of hereditary spherocytosis.