Hereditary Spherocytosis, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

by Kenneth Kee

Overview

This book describes Hereditary Spherocytosis, Diagnosis and Treatment and Related Diseases
Hereditary spherocytosis is a rare medical disorder of the surface layer of red blood cells.
It results in red blood cells that appear like spheres, and causes premature breakdown of red blood cells (hemolytic anemia).
It may manifest as a collection of inherited disorders which present as spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear
Causes
This disorder is produced by a defective gene.
The defect leads to an abnormal red blood cell membrane.
The involved cells have a reduced surface area for their volume than normal red blood cells, and can rupture easily.
The anemia can range from mild to severe.
The medical severity differs (depending on the mutation), from asymptomatic to a life-threatening hemolytic anemia
All mutations change the cell membrane, producing loss of membrane surface area and decreased capability of the cell to change shape.
These abnormal red cells are then selectively kept and removed in the spleen, which decreases red cell life and causes the hemolytic anemia.
Defects in several membrane proteins may be present (e.g., alpha-spectrin, beta-spectrin, ankyrin, protein 4.2).
Symptoms
Infants may have jaundice (yellowing of the skin and eyes) and pallor (pale coloring).
Other symptoms may be:
1. Fatigue
2. Irritability
3. Shortness of breath
4. Weakness
Patients may manifest at any age with hemolytic anemia, jaundice (either from hemolysis or gallstones) and splenomegaly
Diagnosis
Most patients can be diagnosed based on a family history, characteristic medical features and laboratory investigations
1. Spherocytes,
2. Raised mean corpuscular hemoglobin concentration (MCHC), and
3. An increase in reticulocytes.
They do not require any additional tests
In most instances, the spleen is enlarged.
Tests may be:
1. Blood smear to show abnormally shaped cells
2. Bilirubin level
3. Full blood count to check for anemia
4. Coombs test
5. LDH level
6. Osmotic fragility or specialized testing to evaluate for the red blood cell defect
7. Reticulocyte count for hemlytic anemia
SDS-polyacrylamide gel electrophoresis of erythrocyte membrane proteins is done to confirm the diagnosis of atypical hereditary spherocytosis
Treatment
Surgery to remove the spleen (splenectomy) does not correct the abnormal cell shape but can cure the anemia.
Families with a history of spherocytosis should have their children evaluated for this disorder.
Children should wait until age 5 to have splenectomy because of the infection danger.
In mild cases diagnosed in adults, it may not be crucial to remove the spleen.
Children and adults should be given a pneumococcal vaccine before spleen removal surgery.
They also should take more folic acid supplements.
Once the diagnosis and baseline severity are ascertained, it is not essential to do repeated blood tests unless there is a further medical indication (e.g., infection, pallor, a rise in jaundice)
A routine annual review is normally adequate.
Mild cases do not normally need folate supplements or splenectomy
Steroid therapy may be successful in increasing hemoglobin levels during hemolytic crises in patients with moderate disease and will lead to the patient needing fewer transfusions
Moderate-to-severely involved patients are normally given folate supplementation and provided an offer of splenectomy:
Splenectomy removes anemia and hyper-bilirubinemia and reduces the high reticulocyte number to nearly normal levels
The treatment of hereditary spherocytosis with splenectomy is curative in most patients
A laparoscopic method should be used by a qualified surgeon

TABLE OF CONTENT
Introduction
Chapter 1 Hereditary Spherocytosis
Chapter 2 Causes
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Hemolytic Anemia
Chapter 8 Splenomegaly
Epilogue

Product Details

BN ID:	2940155767503
Publisher:	Kenneth Kee
Publication date:	08/06/2018
Sold by:	Smashwords
Format:	eBook
File size:	116 KB

About the Author

Medical doctor since 1972. Started Kee Clinic in 1974 at 15 Holland Dr #03-102, relocated to 36 Holland Dr #01-10 in 2009. Did my M.Sc (Health Management ) in 1991 and Ph.D (Healthcare Administration) in 1993. Dr Kenneth Kee is still working as a family doctor at the age of 65. However he has reduced his consultation hours to 3 hours in the morning and 2 hours in the afternoon. He first started writing free blogs on medical conditions seen in the clinic in 2007 on http://kennethkee.blogspot.com. His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiolographical account of his journey as a medical student to family doctor on his other blog afamilydoctorstale.blogspot.com. This autobiolographical account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Conditions” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com. From which many free articles from the blog was taken and put together into 550 amazon kindle books and some into Smashwords.com eBooks. He apologized for typos and spelling mistakes in his earlier books. He will endeavor to improve the writing in futures. Some people have complained that the simple guides are too simple. For their information they are made simple in order to educate the patients. The later books go into more details of medical conditions. The first chapter of all my ebooks is always taken from my blog A Simple Guide to Medical Conditions which was started in 2007 as a simple educational help to my patients on my first blog http://kennethkee.blogspot.com. The medical condition was described simply and direct to the point. Because the simple guide as taken from the blog was described as too simple, I have increased the other chapters to include more detailed description of the illness, symptoms, diagnosis and treatment. As a result there are the complaints by some readers of constant repetitions of the same contents but in detail and fairly up to date. He has published 550 eBooks on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter. The purpose of these simple guides is to educate patient on health conditions and not meant as textbooks. He does not do any night duty since 2000 ever since Dr Tan had his second stroke. His clinic is now relocated to the Bouna Vista Community Centre. The 2 units of his original clinic are being demolished to make way for a new Shopping Mall. He is now doing some blogging and internet surfing (bulletin boards since the 1980's) starting with the Apple computer and going to PC. All the PC is upgraded by himself from XT to the present Pentium duo core. The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive. He is also into DIY changing his own toilet cistern and other electric appliance. His hunger for knowledge has not abated and he is a lifelong learner. The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned. This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale. Dr Kee is the author of: "A Family Doctor's Tale" "Life Lessons Learned From The Study And Practice Of Medicine" "Case Notes From A Family Doctor"