94- Disorders of Hemoglobin Flashcards
(41 cards)
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
