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Sickle Cell Disease. Martin H. Steinberg. Department of Medicine, Boston University School of Medicine, Boston, MA. (07/18/13). Sickle Cell Disease: General Points. Globin Gene Mutations are Autosomal Co-dominant (Recessive) Traits.

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sickle cell disease

Sickle Cell Disease

Martin H. Steinberg

Department of Medicine, Boston University School of Medicine, Boston, MA

(07/18/13)

slide3

Globin Gene Mutations are Autosomal Co-dominant (Recessive) Traits

slide5

Laboratory Diagnosis

family study, clinical symptoms, exam, blood morphology

separation of hemoglobin proteins by HPLC

DNA-based Dx by PCR and sequencing

slide6

Many Genotypes Comprise the Phenotype of Sickle Cell Disease

slide7

Sickle Cell Trait

  • Sickle cell trait is not a disease
  • Normal blood counts (PCV, MCV, reticulocytes)
  • Normal blood film
  • 60% HbA, 40% HbS, normal HbA2 and HbF
  • Normal lifespan; few medical problems hyposthenuria; hematuria; ? increased UTI in pregnancy; 2x increased risk of thromboembolic disease and pulmonary embolism(4x); increased risk of death from exertional heat illness
slide8

Pathophysiology

Complexity suggests sites for intervention

slide9

Irreversibly Sickled Cells (ISCs)

Result of membrane damage

Hemoglobin may be in solution

Do NOT signify acute sickle cell-related events

slide10

Vascular Complications

Little affected by HbF concentration; less prevalent with co-incident α thalassemia; sometimes a mortality risk

slide11

Other Complications

HbF affects the incidence of many of these complications

slide13

Necrotic Bone Marrow Embolization and ACS

46 y.o. man,HbSC disease, chest and leg pain, weakness, SOB. Acute severe anemia, leukocytosis, hypoxia, obtundation, liver and renal failure, death.

slide14

Pain in Sickle Cell Disease

Acute painful episode-most frequent

Acute chest syndrome-often presents as acute pain

Others

Osteonecrosis

Leg ulcers

Acute

Chronic

opioid induced, secondary to acute pain

Neuropathic

(

slide17

Diagnosis of the Acute Painful Episode

(Ballas and Smith, Blood, 1992)

neuropathic pain
Burning

Tingling

Shooting

Lancinating

Numb

Paroxysmal

Emotional distress

Behavioral dysfunction

Neuropathic Pain

Damage or dysfunction of the nervous system

Associated with dysesthesia and allodynia Continuous and/or episodic

Rx: antidepressants, anticonvulsants, opioids, others

slide27

Benefits of Hydroxyurea

After 17.5 years, ↓deaths; 87% of deaths occurred in patients who never took hydroxyurea or took it for <5 years. Long-term use of hydroxyurea in adults is safe.

(Steinberg et al, 2003, Steinberg et al, 2010, Voskaridou et all, 2009)

stem cell transplantation
Stem Cell Transplantation

Myeloablative transplantation in children: ~85% disease free survival (Lucarelli, 2012)

Nonmyeloablative HLA matched transplants in 10 adults: stable mixed chimerism and "cure" in 9 of 10 cases (Hsieh, 2009)

Related haploidentical transplants in adults and children (Bolanos-Meade, 2012; Dallas, 2013)

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