Anemias and Hemophilia Overview

Anemias and Hemophilia

• Anemia occurs when hemoglobin levels fall below the normal range for a person's age and sex.
• Adult males with anemia have hemoglobin below 13 gm/dL, while adult females have hemoglobin levels below 12 gm/dL.
• Anemia symptoms stem from the anemia itself and the underlying cause.
• Factors affecting anemia symptom onset include speed of onset (rapid vs. slow), age (elderly tolerate less), and severity.
• Mild anemia (10-12 or 13 gm/dL) may be asymptomatic; symptoms appear in moderate anemia (7-10 gm/dL).
• Common anemia symptoms include fatigue, weakness, pallor (most prominent), dizziness, fainting, headache, tinnitus, lack of concentration, numbness, menstrual irregularities (amenorrhea or menorrhagia).
• Cardiovascular symptoms can include exertional dyspnea, angina pectoris in the elderly, and intermittent claudication. Heart failure and bounding pulse may also occur. ECG changes are also possible.
• Renal symptoms may involve slight proteinuria, impaired kidney concentrating power, and aggravation of renal failure.
• Gastrointestinal symptoms include anorexia, flatulence, nausea, and constipation.
• Severe anemia can impair liver function.

Approaching a Patient with Anemia

• Diagnosing anemia typically involves three key questions:
  • Is the patient anemic?
  • What type of anemia is it?
  • What is the cause of the anemia?
• The initial diagnosis of anemia is based on the signs and symptoms described above, but these signs are non-specific for anemia.
• Determining anemia type uses blood tests including red blood cell counts, hemoglobin concentration (Hb), red cell indices, white blood cell counts, and platelet counts.
• Three anemia classifications are:
  • Microcytic:
    • MCV (mean corpuscular volume) is 80 fl; MCH (mean corpuscular hemoglobin) is 27 pg; MCHC (mean corpuscular hemoglobin concentration) is 30 gm/dL.
    • Common causes include iron deficiency, thalassemia, sideroblastic anemia, lead poisoning and chronic diseases.
  • Normocytic normochromic:
    • MCV, MCH, and MCHC are in the normal range.
    • Can be caused by acute hemorrhage, diverse hemolytic anemias, aplastic anemia, bone marrow infiltrations, chronic renal failure and certain chronic conditions.
  • Macrocytic:
    • MCV is 90 fl
    • Red blood cells are typically normochromic
    • Common causes include megaloblastic anemia, and certain non-megaloblastic macrocytic anemias (liver disease, myelodysplasia).

Causes of Anemia

• Decreased red blood cell production can result from stem cell failure, progenitor erythroid cell failure (e.g., aplastic anemia, anemia of leukemia, myelodysplastic syndromes, pure red cell aplasia or anemia due to organ failure, or chronic renal failure)
• Increased red blood cell destruction can result from hereditary factors (e.g., membrane defects like hereditary spherocytosis, hemoglobinopathies like thalassemia or sickle cell anemia, enzyme defects like G6PD deficiency) or acquired factors (acquired immune hemolytic anemia, hypersplenism, microangiopathic hemolytic anemia, disseminated intravascular coagulation, acute blood loss, or paroxysmal nocturnal hemoglobinuria).

Hemophilia

• Hemophilia is a hereditary bleeding disorder.

• It results from a deficiency of coagulation factors VIII or IX.

• Hemophilia severity is related to the extent of factor deficiency.

• Diagnosis is suspected with an elevated partial thromboplastin time (PTT) and normal prothrombin time (PT) and platelet count.

• Diagnosis is confirmed via a specific factor assay.

• Hemophilia A: Characterized by factor VIII deficiency; it is X-linked, occurring in about 1 in 5000-10,000 live male births. Severe cases present with spontaneous bleeding.

  • Clinical picture: Bleeding can occur anywhere - bruises, soft tissue bleeding, joint bleeds are common, and sometimes from the nose, oral mucosa, and gingiva, potentially following minor trauma or dental procedures. Hematuria is common. Bleeding after surgery, tooth extractions, or trauma is possible.
  • Diagnosis: Prolonged activated partial thromboplastin time (aPTT), normal prothrombin time (PT), and normal platelet count. Factor activity level (factor VIII) measurement confirms the diagnosis.
  • Treatment: Avoid intramuscular injections. Carefully plan surgical procedures. Treat bleeding promptly with desmopressin (vasopressin analogue) – intravenous or intranasal - for mild/moderate cases, since this increases factor VIII 2-3-fold. Antifibrinolytic agents (e.g., tramenexamic acid or aminocaproic acid) can be helpful adjunctive therapy for mucosal bleeding, particularly with dental extractions. If the patient has hematuria, anti-fibrinolytic agents are to be avoided. Factor VIII concentrate in severe bleeding cases. Fresh frozen plasma is used only when factor concentrate is unavailable. Recombinant human factor VIII can be used.

• Hemophilia B: It is X-linked recessive disorder, less frequent than Hemophilia A, characterized by factor IX deficiency. Treated with factor IX or other hemostatic therapies such as antifibrinolytic agents and/or topical therapies. Fresh frozen plasma can be used only if factor concentrate is unavailable. A recombinant factor IX fusion protein treatment is available.

This quiz covers essential information about anemia, including its definitions, symptoms, and classifications based on hemoglobin levels. The content also explores related conditions such as hemophilia and the impact of various factors on the onset of symptoms. Test your understanding of these hematological disorders and enhance your medical knowledge.