94- Disorders of Hemoglobin Flashcards
What are the 5 types of hemoglobinopathies?
- Structural (sickle cell anemia)
- Thalassemias
- Thalassemias variants
- Hereditary persistence fetal hemoglobin (HPFH)
- Acquired hemoglobinopathy
Hemoglobinopathy has an ___ inheritance pattern
Autosomal co-dominant
High performance liquid chromatography (HPLC) has taken the place of ___ in most labs. If the result is inconclusive refer to ____
Electrophoresis
Full DNA analysis
The most common structural hemoglobinopathy is ____
Sickle cell anemia
Sickle cell anemia is caused by a mutation in the beta globulin gene, changing the 6th amino acid from ___ to ____, resulting in ___.
Glutamic acid
Valine
Hbs
What are the 4 main clinical manifestations of sickle cell anemia?
- Hemolytic anemia
- Vaso-occlusive crisis
- Acute chest syndrome
- Sub chronic damage
Hemolytic anemia is common in sickle cell anemia patients with ____ of 15-30%, and significant ____. It is common to see ___. Pay attention the the __ count which can vary greatly
hct
Reticulocytosis
granulocytosis
white
Vaso-occlusive event in sickle cell anemia can last between ____ to ____. Recurrent events (>____) are in correlation with worse prognosis and require ____.
Hours
Weeks
3 per year
Admission
Vaso occlusive events can be triggered by: (6)
- Infections
- Fever
- Intense physical activity
- Anxiety
- Temperature changes
- Hypoxia
In sickle cell anemia, the spleen is prone to micro vaso occlusion and will stop functioning usually in the first ____ months of life. Acute blockage of the splenic vein is referred to as splenic __ crisis
18-36
sequestration
An acute obstruction of the splenic vein (____) in early childhood (rare), may lead to an emergency ____ and/or ____
Splenic sequestration crisis
Infusion
Splenectomy
Beside the spleen, other sites prone to vaso occlusive damage in sickle cell anemia patients include: (5)
- Retina (retinal detachment)
- Kidney (Renal papillary necrosis)
- Bone ischemia
- Hand-foot syndrome
- Priapism
Acute chest syndrome in sickle cell anemia patients is characterized by ___, ___, __, ___, and___.
Chest pain Tachypnea Fever Cough De-saturation
Acute chest syndrome is commonly accompanied with ___ and ___. Recurrent events suggest ____
PE
Pneumonia
worse prognosis
Patients with ____ thalassemia (____) tend to have less severe clinical manifestations
Sickle cell
Sickle - HbE
Sickle cell anemia ____ are mostly ____ and ____ are usually rare. Unpainful hematuria is uncommon but diagnostic symptom, present in ____
Carriers
Asymptomatic
Painful crisis
Adolescents males
Sickle cell anemia is to be suspected when ___ is found, together with typical __ morphology and episodes of ___.
Hemolytic anemia
RBC
ischemic pain
The factors related to worse prognosis in SC anemia are: (4)
- > 3 crisis a year
- Chronic neutrophilia
- Splenic sequestration crisis/ hand-foot-syndrome
- More than 2 acute chest syndrome events
SC anemia patient with ___ history are in higher risk for recurrent episodes and require ___ and ___
CVA
Blood transfusion
Doppler scanning
Treating acute painful event in SC anemia patients include the following: (5)
- Hydration
- Thorough assessment for the reason
- Aggressive analgesia (patient controlled analgesia)
- Nasal O2
Most crisis resolve within ____, and ___ should be withheld unless extreme situations are in place, since it does not ____
1-7 days
Blood transfusion
Shorten the length of the crisis
Acute chest syndrome is an ____ and may require ___. Hydration should be monitored to prevent __. We look out for ____ and ____. Critical intervention should include __ to maintain Hct > 30 and ___ transfusion if the arterial saturation < __%
Emergency ICU edema Pneumonia PE blood exchange 90
SC anemia patients with severe symptoms may require life long therapy of ____. It raises the level of ___
Hydroxyurea
Fetal hemoglobin
BM transplantation can ___ but is effective and safe only in ___.
Cure
Children
Diagnosis of SC anemia is confirmed by Hb __, __, and __ tests. Complicated heterozygotes may present the disease only when approaching ___ or going through ___
electrophoresis spectroscopy sickling adolescence pregnancy
Thalassemia is an ___ disorder, where the production of __/__/__-globin are disturbed
inherited
alpha
beta
gamma
__chromic and __cytosis characterize all types of __ thalassemia.
hypo
micro
beta
The increased BM inhibits growth and development, giving children ___ face and frontal __. __bone fractures are also common
chipmunk
bossing
pathological
Hemolytic anemia leads to ___, leg __, ___, and __ with high output.
hepatosplenomegaly
abscess
cholelithiasis
HF
What are the 3 types of beta thalassemia?
major
intermedia
minor/trait
Major beta thalassemia require __ to survive. diagnosis is made during __ based on severe __ and typical signs of ineffective erythropoiesis (3)
transfusion
childhood
anemia
hepatosplenomegaly/ microcytosis/ high HbF or HbA2
Management of major beta thalassemia includes: 5
chronic transfusion splenectomy folic acid pneumovax leg abscess monitoring
Major beta thalassemia should undergo endocrine assessment, looking for __ intolerance, decreased __ function, late __
glucose
thyroid
puberty
Beta thalassemia intermedia may survive without chronic __, but should be monitored for __ due to (3)
transfusion anemia infection puberty splenomegaly
Beta thalassemia minor/trait are __. They usually present significant __ with __chromic __ cells and slight __.
asymptomatic microcytosis hypo target anemia
What are the _ types of alpha thalassemia?
4 1 traits 2 trait HbH Hb Barts
Alpha thalassemia 1 traits is when one of the loci of alpha globin is deleted. The patients are __.
asymptomatic
Alpha thalassemia 2 traits is when 2 of the loci of alpha globin are deleted. Patients present symptoms similar to __ thalassemia- slight __ and __ without __
beta
hypochromia
microcytosis
anemia
HbH disease is when _ loci are deleted. Patients will have __ thalassemia (__ anemia, ineffective __). Management is similar to beta thalassemia intermedia (2), avoid oxidizing drugs.
intermedia
hemolytic
erythropoiesis
splenectomy/transfusion
Hb Barts is when _ loci are deleted- resulting in __ __.
4
hydrops fetalis
Patients with hemolytic anemias may suffer from a decrease in Hct during/post infection. __ crisis is characterized in fast decrease of __. It is usually self contained and resolves __ within - weeks. It is common in ___ infection. If the anemia becomes symptomatic- __
aplastic Hct spontaneously 1-2 parvovirus B19A transfusion