Aquifer Pediatrics: Case 30 - 2 yr old
with sickle cell Questions and
Answers Verified Solutions Latest
Update (2026/2027)
Question:
Pathophysiology of Sickle Cell Disease
Answer:
SCD is a group of disorders characterized
by substitution of valine for glutamic acid at the sixth amino acid position of
the hemoglobin
molecule.
This mutation leads to the formation of polymers of hemoglobin when the
hemoglobin becomes
deoxygenated.
These polymers lead to deformation of the red blood cell into the
characteristic "sickle" cells.
Sickle cells have increased adherence and block blood flow in the
microvasculature, which leads
to local tissue hypoxia, pain, and tissue damage.
The abnormal hemoglobin induces hemolysis of the red blood cells leading to
chronic anemia
with an elevation of the reticulocyte count.
Question:
F
Answer:
,Predominant hemoglobin at birth is hemoglobin F (fetal), so this always
appears first in the naming.
Following the F, hemoglobins are listed in order of concentration.
Question:
A
Answer:
Hemoglobin A is normal adult hemoglobin.
Hemoglobin FA (fetal + normal adult) does not cause a sickling disorder.
Question:
FAS
Answer:
FAS means the baby is a carrier of one abnormal hemoglobin gene-for
hemoglobin S.
This individual has benign sickle cell trait-i. e., is a carrier of hemoglobin S.
Question:
FAC
Answer:
FAC means the baby is a carrier of one abnormal hemoglobin gene-for
hemoglobin C.
This individual has benign hemoglobin C trait-i. e., is a carrier of hemoglobin
C.
, Question:
FS
Answer:
This means that both of the baby's hemoglobin genes have mutations for
hemoglobin S.
FS is the most common hemoglobin pattern causing sickle cell disease.
Question:
FSA
Answer:
FSA is sickle cell beta thalassemia, meaning one of the globin genes has a
mutation for S and the other has a mutation for beta thalassemia (which
produces no or little
normal hemoglobin).
This pattern causes a sickling disorder, although it may behave in a milder
fashion than FS (in
which both genes have the sickling mutation). From a clinical management
standpoint, these
patients are treated in the same manner.
Question:
FSC
Answer:
FSC is sickle cell hemoglobin C disease: one gene has the S mutation and
one gene has the mutation for hemoglobin C.
This pattern causes a sickling disorder, although it may behave in a milder
with sickle cell Questions and
Answers Verified Solutions Latest
Update (2026/2027)
Question:
Pathophysiology of Sickle Cell Disease
Answer:
SCD is a group of disorders characterized
by substitution of valine for glutamic acid at the sixth amino acid position of
the hemoglobin
molecule.
This mutation leads to the formation of polymers of hemoglobin when the
hemoglobin becomes
deoxygenated.
These polymers lead to deformation of the red blood cell into the
characteristic "sickle" cells.
Sickle cells have increased adherence and block blood flow in the
microvasculature, which leads
to local tissue hypoxia, pain, and tissue damage.
The abnormal hemoglobin induces hemolysis of the red blood cells leading to
chronic anemia
with an elevation of the reticulocyte count.
Question:
F
Answer:
,Predominant hemoglobin at birth is hemoglobin F (fetal), so this always
appears first in the naming.
Following the F, hemoglobins are listed in order of concentration.
Question:
A
Answer:
Hemoglobin A is normal adult hemoglobin.
Hemoglobin FA (fetal + normal adult) does not cause a sickling disorder.
Question:
FAS
Answer:
FAS means the baby is a carrier of one abnormal hemoglobin gene-for
hemoglobin S.
This individual has benign sickle cell trait-i. e., is a carrier of hemoglobin S.
Question:
FAC
Answer:
FAC means the baby is a carrier of one abnormal hemoglobin gene-for
hemoglobin C.
This individual has benign hemoglobin C trait-i. e., is a carrier of hemoglobin
C.
, Question:
FS
Answer:
This means that both of the baby's hemoglobin genes have mutations for
hemoglobin S.
FS is the most common hemoglobin pattern causing sickle cell disease.
Question:
FSA
Answer:
FSA is sickle cell beta thalassemia, meaning one of the globin genes has a
mutation for S and the other has a mutation for beta thalassemia (which
produces no or little
normal hemoglobin).
This pattern causes a sickling disorder, although it may behave in a milder
fashion than FS (in
which both genes have the sickling mutation). From a clinical management
standpoint, these
patients are treated in the same manner.
Question:
FSC
Answer:
FSC is sickle cell hemoglobin C disease: one gene has the S mutation and
one gene has the mutation for hemoglobin C.
This pattern causes a sickling disorder, although it may behave in a milder
