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Sickle Cell Anemia -striving to

provide comprehensive care at

CHAM

Kerry Morrone, MD

Director of the Pediatric Sickle Cell Program

11-2-16

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Objectives

• Demonstrate how to interpret a hemoglobin

electrophoresis

• Update on treatment guidelines from the NHLBI

• Review vaccination guidelines

• Overview on special considerations in prescribing

medications or performing surgical procedures in

sickle cell disease

•

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Prevalence in U.S 90-100,000 Incidence in Africa 200,000 infants/year

Sickle Cell Disease: A Public Health Problem

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Hemoglobin Structure

montekids.org Stuart . 2014 Lancet

Pathophysiology of vaso-occulsion

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Name Genotype Percent

Homozygous SS (Sickle Cell Anemia) S-S 65

Heterozygous SC (Hb SC Disease)

S- C 24

Heterozygous S-+ thal S- + thal 7

Heterozygous S-° thal

S- ° thal

3

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Mortality in sickle cell disease-more to be done

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Perspectives from a clinical case

• Two siblings present with their parents to clinic

after recently immigrating from Liberia.

• They think their children may have a blood

disorder, but are unsure.

• Fareed the 10 year old child had to be

hospitalized several times for infection and gets

pain intermittently

• Kadida is 2 years old and has not had any

complications

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How would you test this family? What are the

methods to screen for sickle cell trait/disease?

• As of 2006 all 50 states now require new born screen

testing for sickle cell disease

• Best screening methods: hemoglobin electrophoresis,

HPLC, isoelectric focusing

• Sickle cell solubility test has many potential errors

• NCAA offers testing of all athletes in Divisions I-III

• 16 % of individuals and 37 % of parents of children

tested are aware of their sickle cell carrier status

Treadwell et al. J Nat Med Assoc . 2006

Naik and Haywood. 2015. Ash Education Program

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Perspectives from a clinical case

• Fareed’s labs:

• 15>7/24<550

• MCV: 75

• Retic: 10

• LDH: 400

• TB/DB: 2.5/.4

• Hemoglobin electrophoresis:

• S%: 90 A2%: 3 F%: 7

• Kadida’s labs:

• 5>12/36<300

• MCV: 75

• Retic: 1

• LDH: 200

• TB/DB: .4/.2

• Hemoglobin electrophoresis:

• S%: 25 A%: 65 A2%: 3 F%: 7

What do you inform this family?

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Perspectives from a clinical case

• The family is informed that Fareed has SS

disease and that Kadida has sickle trait .

• The family wants to discuss the risk factors for

Kadida and want to know what does the

literature say?

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Are there additional risks of having sickle cell trait ?

• No systematic review of complications

• Exertional related injury documented in

retrospective reports

• NEJM- 2016 not increased

• Chronic kidney disease and albuminuira – 1.57

OR (CI 1.34-1.84)

Naik et al. 2014 JAMA

Kark JA et al. 1987 NEJM

Harmon KG et al. 2012 Br J Sports

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Another common scenario…

• Destiny is a 2 month old born in Florida whose

family has moved to the Bronx this week and

mom wants to establish care

• Mom knows there is sikcle cell trait in her family

and missed her follow up appointment to go

over newborn screen results. She asks for her

daughter to be tested

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Another common scenario…

• 10>12<350 MCV: 75 retic: 1.5

• Hemoglobin electrophoresis: S-20 % F->40%

A2:5%

• Does this patient have sickle cell disease or

trait?

• Do they need any additional follow up or

treatments ?

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Another common scenario…

• This patient has sickle cell disease and should

be started on penicillin prophylaxis and referred

to a hematologist

• Fetal hemoglobin is elevated in the newborn

period

• In sickle cell disease the level of fetal

hemoglobin is not stabilized even up until 5

years old

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30 years later from the landmark prophylaxis

study …

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Vaccination recommendations

Steinberg. 2015 BJH

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What is the rate of infection

post vaccination era?

• Post vaccine rate of bacteremia: .8 % in setting

of febrile episodes

• Presence of a central venous line, band count,

clinical appearance and age helped to predict

bacteremia

• Patients still require a blood culture, broad

spectrum antibiotics and ability to have close

follow up

Chang et al. 2013

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What does the CDC suggest for

meningococcal vaccinations?

• New updates for children with anatomic or functional

asplenia (including sickle cell disease):

• Can start vaccinating at 2 months old with Menveo or

Menhibirix

• If start vaccinating at 2 months then should receive

vaccines at 2,4, 6 and 12 months

• Catch up vaccine schedule

• Menactra can be used in over 2 years of age

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At 430 pm on a Friday afternoon

• Jose and his mother present to the Adolescent

doctor for his routine visit

• He is noted to be tachypneic and febrile to 102

• He states he was febrile this morning but felt

better after motrin.

• Besides the tachypnea he is very well

appearing and states he wants to go home..

• What do you do ?

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NHLBI guidlelines for fever

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• Jose is seen in the emergency room and as the resident

is doing medication reconciliation they notice he is on

hydroxyurea

• On further questioning Jose states he has had very few

crises and very minimal complications

• The family states his hematologist suggested he be on it

for his general health

• Is there an indication to do that?

Hydroxyurea- who , when and why ?

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Randomized phase III trial

9-18 months

N=193

18 month follow up

Excellent safety profile

Decreased pain crisis

Decreased dactylitis

Improved hemoglobin

Decreased inpatient hospitalization costs

Wang Pediatrics 2013

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< 5 yrs

5 <10yrs

10 <15yrs

>15yrs

Never

Death

Stroke

Renal Disease

Hepatic disease

Sepsis/Infection

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NHLBI 2014 Guidelines:

Hydroxyurea

****

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• Jose tells you he is also upset because he is supposed to

have surgery tomorrow to help with his snoring

• He is afraid his fever will prevent him from getting the

surgery

• After checking his labs his hemoglobin returns at 8 , retic:

10

• If he is feeling better should be just go to the ambulatory

suite tomorrow to remove his tonsils?

Surgical considerations

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What are common surgeries or procedures

for patients with sickle cell anemia?

• Tonsillectomy & adenoidectomy

• Cholecystectomy

• Orthopedic procedures (core decompression of

hip)

• Splenectomy

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Procedural/Surgical Preparations for Sickle

Cell Disease

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Procedure/Surgical Preparation

• Refer to your patient’s hematologist

• Blood work is done and patients are optimized

by blood transfusions and/or IVF

• Patients typically admitted the night prior to

surgery or procedure if it requires sedation

• Medical clearance should be provided by

hematologist

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By request: special considerations

• No estrogen containing contraception

• Steriods- to be used judiciously and tapered for

risk of VOC and ACS rebound

• Headache restrictions (triptans)

Whitley- ASH education book

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Objectives

• Demonstrate how to interpret a hemoglobin

electrophoresis

• Update on treatment guidelines from the NHLBI

• Review vaccination guidelines

• Overview on special considerations in prescribing

medications or performing surgical procedures in

sickle cell disease

montekids.org

CHAM Pediatric Hematology team