General Information for Families
Sickle Cell Disease (SCD) is caused by the malfunction of the red blood cells in affected individuals causing a very severe form of anemia.
Inheritance and Frequency
The gene defect for sickle cell disease is an autosomal recessive genetic trait
and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.
It is estimated that on average, sickle cell disease effects 1 of every 1,300 infants
in the general population and approximately 1 of every 400 of African descent. It
is seemingly more common in individuals of African and Mediterranean ancestry, however,
it is not limited to these groups. Ancestor groups should not be a reason to avoid
screening for this disorder. It can be found in children of all backgrounds.
Signs & Symptoms
Untreated newborns often develop septicemia, an infection of the blood, and die within a few weeks of birth.
Long Term Effects
There is an extremely high mortality for sufferers under the age of five, although,
better treatments are becoming available to help cope with this disease.
Treatment
Even though there is no cure for sickle cell disease, it is treated by taking folic
acid and penicillin throughout the life of an affected individual.
Source: savebabies.org
What is Sickle Cell Disease?
Sickle cell disease affects red blood cells. Red blood cells help carry oxygen throughout
the body. When a person has sickle cell disease, the red blood cells can become
sickle shaped (instead of donut shaped). The sickled red blood cells can block the
vessels through which blood flows. This blockage prevents blood and oxygen from
reaching certain parts of the body. This blockage can cause a lot of pain and damage
organs. The change from round to sickled blood cells (also called a “sickle cell
crisis”) can be caused by a person becoming dehydrated (not having enough fluid
in the body), getting sick or being exposed to extreme cold without protective clothing
such as hats and gloves in the winter. Sometimes there is no clear cause for a sickle
cell“ crisis.” The red cells of a person with sickle cell disease do not live as
long as the regular, round red blood cells. This leaves fewer red blood cells in
the blood. Having fewer red blood cells in the blood is called “anemia.”
What causes Sickle Cell Disease?
Sickle cell disease is inherited when both parents pass an abnormal hemoglobin gene to their child. This means both parents are carriers of certain type of hemoglobin
(usually hemoglobin S) and have sickle cell trait. People with sickle cell trait
do not have health problems related to sickle cell disease. When two carriers have children together, there is a one in four (25%) chance for each child to have sickle
cell disease.
How is Sickle Cell Disease detected?
Newborn screening is done on tiny sample of blood taken from the infant’s heel 24-48 hours after birth. After a positive newborn screen, testing at special labs must be done to know for sure if a baby has sickle cell disease. This testing
also helps figure out the type of sickle cell disease the child has.
What problems can Sickle Cell Disease cause?
People with sickle cell disease can have anemia (not enough red blood cells), jaundice
(skin becomes yellow), and pain episodes or “sickle cell crises.” Children with
sickle cell disease may get more infections because their spleen is damaged by sickle
cells (one of the spleen’s main jobs is to protect against infection). Common childhood
infections can be life threatening for children with sickle cell disease if not
treated right away.
What is the treatment for Sickle Cell Disease?
Sickle cell disease can be treated. A child should take antibiotics to prevent infection
and medicines to help control pain. It is also important to prevent dehydration
and illness. Children with sickle cell disease should have all immunizations. For
children who have sickle cell disease:
- After a positive newborn screen, it is extremely important to see a doctor.
- The child should have a primary care doctor and a pediatric hematologist.
- Treatment for sickle cell disease is lifelong, and a child with sickle cell disease should see a doctor regularly.
Source: Minnesota Newborn Screening Program
National and State Specific Family Resources
View National and State Specific Family Resources
Sickle Cell Disease Prevalence by State
The Region 4 Newborn Screening Data, summarized annually, provides detailed data on newborn screening results within Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio and Wisconsin. It is provided here to: assist families and physicians in knowing the relative number of confirmed annual cases for the disorder within each state and how it compares to other states in the region. assist families and specialists across states in connecting with specialists who may have experience treating a specific rare disorder. It is important to note that ongoing developments in the sophistication of technology allows states to progressively increase the number of disorders they screen in their program.
| 2005 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 175659 | 85570 | 144509 | 124942 | 70934 | 71058 | 52222 | 724894 |
| Total Specimens: | 182799 | 107983 | 151193 | 133680 | 74887 | 73857 | 0 | 724399 |
| FS (Hb-SS - Sickle Cell Disease) | 52 | 0 | 27 | 46 | 20 | 6 | 3 | 151 |
| FSC (Hb-SC - Sickle Hb C Disease) | 31 | 0 | 30 | 18 | 1 | 0 | 4 | 80 |
| FSA (Hb-S - Sickle Beta Thalasemia) | 4 | 0 | 3 | 12 | 2 | 1 | 0 | 22 |
| FC (Hb-C Disease) | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| FE (Hb-E Disease) | 2 | 0 | 0 | 0 | 2 | 0 | 0 | 4 |
| FCA (Hb-C beta plus Thalassemia) | 4 | 0 | 0 | 0 | 1 | 0 | 0 | 5 |
| F (Hb-F Disease) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| FD (Hb-D Disease) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| FSD (Sickle Hb-D Disease) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| FAS (Hb-AS - Sickle Cell Trait) | 0 | 0 | 0 | 0 | 697 | 0 | 0 | 697 |
| FAC (Hb-C Carrier) | 0 | 0 | 0 | 0 | 203 | 0 | 0 | 203 |
| 2004 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 177603 | 87942 | 142023 | 134103 | 66625 | 70579 | 50930 | 729805 |
| Total Specimens: | 183727 | 107852 | 151296 | 127572 | 68895 | 71791 | 53583 | 764716 |
| FS (Hb-SS - Sickle Cell Disease) | 51 | 28 | 0 | 23 | 13 | 0 | 0 | 115 |
| FSC (Hb-SC - Sickle Hb C Disease) | 30 | 0 | 0 | 13 | 7 | 0 | 0 | 50 |
| FSA (Hb-S - Sickle Beta Thalasemia) | 4 | 0 | 0 | 5 | 1 | 0 | 0 | 10 |
| FC (Hb-C Disease) | 7 | 0 | 0 | 0 | 1 | 0 | 0 | 8 |
| FE (Hb-E Disease) | 8 | 0 | 0 | 0 | 5 | 0 | 0 | 13 |
| FCA (Hb-C beta plus Thalassemia) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| F (Hb-F Disease) | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| FD (Hb-D Disease) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| FSD (Sickle Hb-D Disease) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| FAS (Hb-AS - Sickle Cell Trait) | 3013 | 678 | 0 | 9 | 643 | 0 | 0 | 4343 |
| FAC (Hb-C Carrier) | 877 | 0 | 0 | 0 | 194 | 0 | 0 | 1071 |
| 2003 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 182590 | 86382 | 151983 | 130937 | 70053 | 70157 | 55281 | 747383 |
| Total Specimens: | 185033 | 109133 | 152211 | 128970 | 73362 | 71095 | 53381 | 773185 |
| FS (Hb-SS - Sickle Cell Disease) | 43 | 24 | 0 | 50 | 12 | 0 | 0 | 129 |
| FSC (Hb-SC - Sickle Hb C Disease) | 38 | 0 | 0 | 0 | 4 | 0 | 0 | 42 |
| FSA (Hb-S - Sickle Beta Thalasemia) | 4 | 0 | 0 | 0 | 3 | 0 | 0 | 7 |
| FC (Hb-C Disease) | 12 | 0 | 0 | 0 | 3 | 0 | 0 | 15 |
| FE (Hb-E Disease) | 7 | 0 | 0 | 0 | 3 | 0 | 0 | 10 |
| FCA (Hb-C beta plus Thalassemia) | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| F (Hb-F Disease) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| FD (Hb-D Disease) | 3 | 0 | 0 | 0 | 0 | 0 | 0 | 3 |
| FSD (Sickle Hb-D Disease) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| FAS (Hb-AS - Sickle Cell Trait) | 3004 | 770 | 0 | 0 | 643 | 0 | 0 | 4417 |
| FAC (Hb-C Carrier) | 907 | 0 | 0 | 0 | 194 | 0 | 0 | 1101 |
| 2002 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 180622 | 84618 | 148720 | 129967 | 68560 | 68025 | 54233 | 734745 |
| Total Specimens: | 184033 | 109360 | 152561 | 127978 | 71634 | 67839 | 52775 | 766180 |
| FS (Hb-SS - Sickle Cell Disease) | 64 | 25 | 0 | 59 | 11 | 0 | 0 | 159 |
| FSC (Hb-SC - Sickle Hb C Disease) | 44 | 0 | 0 | 0 | 6 | 0 | 0 | 50 |
| FSA (Hb-S - Sickle Beta Thalasemia) | 11 | 0 | 0 | 0 | 2 | 0 | 0 | 13 |
| FC (Hb-C Disease) | 15 | 0 | 0 | 0 | 0 | 0 | 0 | 15 |
| FE (Hb-E Disease) | 8 | 0 | 0 | 0 | 5 | 0 | 0 | 13 |
| FCA (Hb-C beta plus Thalassemia) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| F (Hb-F Disease) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| FD (Hb-D Disease) | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| FSD (Sickle Hb-D Disease) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| FAS (Hb-AS - Sickle Cell Trait) | 3006 | 2016 | 0 | 0 | 623 | 0 | 0 | 5645 |
| FAC (Hb-C Carrier) | 919 | 0 | 0 | 0 | 171 | 0 | 0 | 1090 |
