Hereditary Spherocytosis Questions & Answers

Updated: Feb 18, 2021
  • Author: Gus Gonzalez, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Questions & Answers

Overview

What is hereditary spherocytosis (HS)?

What is the pathophysiology of hereditary spherocytosis (HS)?

What is the role of spectrin deficiency in the pathophysiology of hereditary spherocytosis (HS)?

What is the role of ankyrin defects in the pathophysiology of hereditary spherocytosis (HS)?

What is the role of band-3 deficiency in the pathophysiology of hereditary spherocytosis (HS)?

What is the role of protein 4.2 deficiency in the pathophysiology of hereditary spherocytosis (HS)?

What is the role of aquaporin-1 in the pathophysiology of hereditary spherocytosis (HS)?

What is the role of red blood cell antibodies in the pathophysiology of hereditary spherocytosis (HS)?

What causes hereditary spherocytosis (HS)?

What is the prevalence of hereditary spherocytosis (HS)?

What is the morbidity associated with hereditary spherocytosis (HS)?

What is the prognosis of hereditary spherocytosis (HS)?

Presentation

Which clinical history findings are characteristic of hereditary spherocytosis (HS)?

Which physical findings are characteristic of hereditary spherocytosis (HS)?

DDX

What are the types of hereditary spherocytosis (HS)?

How is Gilbert syndrome differentiated from hereditary spherocytosis (HS)?

How is hereditary spherocytosis (HS) differentiated from hereditary xerocytosis (HX)?

What are the differential diagnoses for Hereditary Spherocytosis?

Workup

Which lab studies are performed in the workup of hereditary spherocytosis (HS)?

What is the role of osmotic gradient ektacytometry in the workup of hereditary spherocytosis (HS)?

Which lab results are characteristic of hereditary spherocytosis (HS)?

What is the role of RBC morphology in the diagnosis of hereditary spherocytosis (HS)?

What is the role of an incubated osmotic fragility test in the diagnosis of hereditary spherocytosis (HS)?

What is the role of SDS-PAGE in the workup of hereditary spherocytosis (HS)?

What is the reference technique for the diagnosis of hereditary spherocytosis (HS)?

Which lab tests are performed following an aplastic crisis due to hereditary spherocytosis (HS)?

When is iron status assessed in the workup of hereditary spherocytosis (HS)?

When is ultrasonography indicated in the workup of hereditary spherocytosis (HS)?

When is bone marrow biopsy indicated in the workup of hereditary spherocytosis (HS)?

Treatment

How is hereditary spherocytosis (HS) treated?

What are indications for splenectomy in the treatment of hereditary spherocytosis (HS)?

What is the role of partial splenectomy in the treatment of hereditary spherocytosis (HS)?

What is the efficacy of splenectomy in the treatment of hereditary spherocytosis (HS)?

What are the postsplenectomy blood changes in patients with hereditary spherocytosis (HS)?

What is a possible fatal complication of splenectomy for the treatment of hereditary spherocytosis (HS)?

What is the role of vaccination in the treatment of hereditary spherocytosis (HS)?

What how are gallstones managed in hereditary spherocytosis (HS)?

What is the role of splenectomy in the treatment of hereditary spherocytosis (HS)?

Which specialist consultations are beneficial to patients with hereditary spherocytosis (HS)?

What is included in long-term monitoring of hereditary spherocytosis (HS)?

Medications

What is the goal of drug treatment for hereditary spherocytosis (HS)?

Which medications in the drug class Vitamins are used in the treatment of Hereditary Spherocytosis?