🩸 Sickle Cell & Hemophilia
One clogs vessels, the other cannot form a clot. Both are inherited, and both have one intervention that matters most.
🩸 Sickle cell disease
Abnormal hemoglobin S makes red cells stiffen into a crescent shape when stressed. The rigid cells jam in small vessels, causing pain and tissue infarction.
Everything that triggers a crisis reduces oxygen or water. So treatment is simply the reverse.
| Trigger | Treatment |
|---|---|
| Hypoxia — altitude, infection, exertion | Oxygen |
| Dehydration | Aggressive hydration |
| Cold — causes vasoconstriction | Warmth |
| Stress, infection, acidosis | Treat the cause; analgesia |
Never apply cold to a sickle cell crisis. Cold causes vasoconstriction and worsens sickling. Warm compresses only.
Never give aspirin - it promotes acidosis, which worsens sickling. And pain relief is chronically under-given in sickle cell; opioids are appropriate.
🧠 What to know
- Autosomal recessive. Two genes = disease; one gene = trait, usually symptom-free
- Symptoms do not appear before about 6 months, because fetal hemoglobin protects
- Infection is the leading cause of death in young children — the spleen is damaged early, so penicillin prophylaxis and full vaccination are essential
- Acute chest syndrome — chest pain, fever, hypoxia, new infiltrate. A leading cause of death; a medical emergency
- Splenic sequestration — sudden splenic enlargement, rapid drop in hemoglobin, shock
🩹 Hemophilia
A missing clotting factor — factor VIII in hemophilia A, factor IX in B. X-linked recessive, so it affects boys, carried by mothers.
| Lab | Result |
|---|---|
| aPTT | Prolonged |
| PT | Normal |
| Platelet count | Normal — the platelets are fine, the factor is missing |
| Bleeding time | Normal |
🚨 Hemarthrosis — bleeding into a joint
The hallmark. Warm, swollen, painful joint with reduced movement. Repeated bleeds destroy the joint permanently.
Treatment: RICE + factor
- Rest — immobilize; do not move it
- Ice
- Compression
- Elevate above the level of the heart
- Give the missing factor — this is the definitive treatment
No aspirin, no NSAIDs. Acetaminophen is the safe analgesic. No IM injections, no rectal temperatures, no contact sports.
✅ Living with it
- Swimming and cycling with a helmet are encouraged; contact sports are not
- Soft toothbrush; electric razor when older
- Medical alert identification
- Dental work needs factor cover
- Teach parents to recognize a joint bleed early — a tingling or warmth before visible swelling
🧸 And the third one: ITP
Immune thrombocytopenic purpura — platelets destroyed after a viral illness. Low platelets, petechiae and bruising, often in an otherwise well child. Usually self-limiting.
Hemophilia = normal platelets, missing factor. ITP = low platelets.
🎯 NCLEX traps
- Sickle crisis = oxygen, hydration, analgesia, warmth. Never cold, never aspirin
- Sickle symptoms start after 6 months
- Hemophilia has NORMAL platelets — only the factor is missing
- Joint bleed → immobilize, ice, elevate, give factor
- Acetaminophen only — no aspirin or NSAIDs in either condition