G6PD - mode of inheritance & likely ethnicities - describe problem - describe crisis - most common triggers

- X-linked & Mediterranean, Jews, South Asians - G6PD works with NADPH to keep glutathione mopping up free oxidants within RBCs, depletion leads to protein & enzyme damage which lead to hemolysis - hemolysis, jaundice - Abx (TMP-SMX, nitrofurantoin), antimalarials, methylene blue, ASA, naphthalene, DKA, sepsis, hepatitis...

Diamond Blackfan anemia - mode of inheritance - age of presentation - clinical features - lab features - treatment

- AD +/- 50% - 2-6 months, 90% <1yr - short stature, dysmorphisms 50% - normochromic, macrocytic, reticulocytopenia, BM normal, high HgbF, high erythrocyte adenine deaminase - steroids, transfusions, SCT

Transient Erythroblastopenia of Childhood - age range - pathophys - lab findings - natural history

most common red cell aplasia in children! - 6mo to 3yrs, mean age at dx 26months - ?viral, temporary suppression of erythropoiesis, some neutropenia can occur, thrombocytosis as well - recover in 1-2 months

Hematology q-bank Flashcards by Caitlin Prendergast

Kasabach-Merritt clinical and lab features

clinical: giant hemangioma and localized intravascular coagulation
laboratory: thrombocytopenia, consumption coagulopathy (low fibrinogen), microangiopathic hemolytic anemia (schistocytes, RBC fragments)

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Kasabach-Merritt treatment options (acute & chronic)

acute: platelets, pRBC, FFP, aminocaproic acid
surgical excision, steroids, embolization, radiation therapy, vincristine, cyclophosphamide…
Mortality significant!

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Von Willebrand factor

- types and difference & *why it matters re: treatment

type 1: quantitatively reduced –> only responder to DDAVP
type 2: qualitatively abnormal
(2a- abnormal protein, 2b- hyperactive protein, binds platelets at lower concentrations and thus can worsen bleeding with DDAVP)
type 3: absent VWF –> 2&3 bleeds treat with recombo FVIII/VWF or cryo

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Where does Wilms tumour metastasize to?

lungs

occasionally liver

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Where does osteosarcoma metastasize to?

lungs

bones

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Where does neuroblastoma metastasize to?

cortical bone
bone marrow
liver
distant lymph nodes
skin
dura
eyes
rarely pulmonary or intracranial

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Where does medulloblastoma metastasize to?

leptomeningeal

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Hereditary spherocytosis

1) method of transmission
2) clinical features
3) lab features
4) treatment

1) AD 75%, new mutation 25%
2) asymptomatic to severe hemolytic anemia, most commonly hemolytic disease of newborn (anemia & hyperbili), anemia, gallstones, splenomegaly, *susceptibility to aplastic crises
3) MCV normal, MCH normal to increased
4) splenectomy at 5-6yrs if severe, folic acid, vaccines for encapsulated organisms

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Advantages of leukodepletion in transfusions?

reduces virus transmission (*CMV)
reduces alloimmunization to HLA antigens
reduces incidence of febrile transfusion reactions

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What are the following hemoglobins made of?
A
A2
F
HbH
Hb Bart

A - a2b2
A2- a2d2
F- a2g2
HbH- b4
Hb Bart- g4

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How many copies of alpha globin?

Describe what happens when they get knocked out & test results.

4 alpha globin copies on chr 16
1 missing: silent carrier
2 missing: alpha-Thalassemia trait, lower Hgb concentration in cells= normal Hgb electrophoresis, mild anemia (microcytic, hypochromic), occ HbH incl bodies. diagnose with molecular testing
3 missing: hemoglobin H disease, moderate anemia, hgb electrophoresis show HbH
4 missing: hydrops fetalis, Hb Bart

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G6PD

mode of inheritance & likely ethnicities
describe problem
describe crisis
most common triggers

X-linked & Mediterranean, Jews, South Asians
G6PD works with NADPH to keep glutathione mopping up free oxidants within RBCs, depletion leads to protein & enzyme damage which lead to hemolysis
hemolysis, jaundice
Abx (TMP-SMX, nitrofurantoin), antimalarials, methylene blue, ASA, naphthalene, DKA, sepsis, hepatitis…

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Cyclophosphamide side effect?

hemorrhagic cystitis

can also be caused by other meds, viruses, radiation, amyloidosis, polyoma BK virus in immunosuppressed

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Risk factors for cerebrovascular disease in sickle cell?

as per UTD

prior TIA
low steady state Hgb (high percentage HgbS)
rate of acute chest syndrome
episode of acute chest within last 2 weeks
elevated systolic blood pressure

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Diamond Blackfan anemia

mode of inheritance
age of presentation
clinical features
lab features
treatment

AD +/- 50%
2-6 months, 90% <1yr
short stature, dysmorphisms 50%
normochromic, macrocytic, reticulocytopenia, BM normal, high HgbF, high erythrocyte adenine deaminase
steroids, transfusions, SCT

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Transient Erythroblastopenia of Childhood

age range
pathophys
lab findings
natural history

most common red cell aplasia in children!

6mo to 3yrs, mean age at dx 26months
?viral, temporary suppression of erythropoiesis, some neutropenia can occur, thrombocytosis as well
recover in 1-2 months

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How many copies of beta globin?

Describe what happens when they get knocked out & test results.

2 beta globin copies

1 missing: beta-thalassemia minor, mild anemia with low MCV and high RBC. Hemoglobin electrophoresis starts normal but by 1 yr HgbA2 +/- HgbF are elevated. No treatment necessary.
2 missing: beta-thal major or Cooley anemia. Transition from HgbF to A cannot occur so by 1 yr have severe microcytic, hypochromic anemia. They have FTT, HSM, CHF, bone marrow expansion for hematopoiesis, need for chronic transfusions and develop iron overload. SCT to fix.

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Beckwith-Wiedeman screening for what and how often?

hypoglycemia, with random and for symptoms during first days of life
screen for developmental issues
Wilms tumour and hepatoblastoma: abdominal ultrasound q3 months until 8 years with serum AFP q2-3 months during first 4 years
nephrocalcinosis, nephrolithiasis and medullary sponge kidney: abdo US q1-2 years with urinary calcium:creatinine ratio

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Advantages of irradiated blood?

Further inactivates donor cells to reduce GVHD

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Indications for washed pRBCs?

history of hemolytic transfusion reaction

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Good prognostic indicators for ALL?

rapid response to therapy

cellular indices like hyperdiploidy, trisomies 4 and 10, t12:21, FAB L1 subtype)

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Poor prognostic indicators in ALL?

age <1 or >10
philadelphia chromosome t9:22
WBC >50,000 at presentation
Mature B-cell leukemia
T-cell leukemia
Monosomies

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Genetic conditions predisposing to childhood leukemia

aim for 5

Ataxia-telangiectasia
C(K)linefelters, Kostmann syndrome
Down syndrome
Diamond-Blackfan anemia
nEurofibromatosis1
Fanconi anemia, Li Fraumeni
Schwachman-Diamond syndrome
SCID
PNH
Wiskott Aldrich

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Maximum amount of cow’s milk?
Dose of treatment iron?
Duration of iron treatment?

<20 oz daily
4-6mg/kg elemental iron
8 weeks after blood values normalize

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Anterior mediastinal mass differential diagnosis?

``` Teratoma Thymoma Thyroid tumour T-cell leukemia Terrible lymphoma ```

Middle mediastinal mass differential diagnosis?

Lymphoma | Bronchogenic cyst or tumour

Pathognomonic feature of Hodgkin lymphoma

Reed-Sternberg cell

Most common age group and presentation of Hodgkin lymphoma?

15-19 year old | 75% present with mediastinal disease

Name the tumour location: Gaze palsy Multiple cranial nerve palsies Upper motor neuron deficits

Brainstem tumour

Name the tumour location: Focal disorders like motor weakness, sensory changes, speech disorders, seizures and reflex abnormalities Early hand preference in infants

Supratentorial tumours

Name the tumour location: | Neuroendocrine deficits: DI, galactorrhea, precocious puberty, hypothyroidism

Suprasellar region tumours and third ventricular region tumours

Name the tumour location: Headache, nausea, vomiting and papilledema Disorders of equilibrium, gait, coordination

Classically associated with infratentorial tumours

Name the tumour location: | Blurred vision, diploplia and nystagmus

Classically associated with infratentorial tumours

Name the tumour location: | failure to thrive, emaciation, euphoria, increased appetite

Tumour in the diencephalon, just above the brainstem

Name the tumour location: | upward gaze palsy, dissociation of pupillary response to light and accommodation, and failure of ocular convergence

Parinaud syndrome | Pineal gland tumour

ITP therapy options? | 3

IVIG - rapid rise within 48hrs, s/e headache and vomiting Anti-D Therapy - for Rh positive patients, induces mild hemolytic anemia and interferes with platelet destruction, rare life-threatening hemolytic cases have occurred Prednisone - reeeeally ask yourself if you need to do a bone marrow biopsy to rule out ALL before you start

Indications for splenectomy in ITP? | 2

>4yr old with >1yr and whose symptoms are not easily controlled (that OR Rituximab for chronic ITP) Life threatening hemorrhage complicating ITP with failure of medical therapy

``` Risk of transmission of these diseases in blood transfusions? HIV Hep C Hep B Parvo ```

HBV 1/1-1.3 million HCV 1/5-7 million HIV 1/ 8-12 million 1/5-20 thousand

6 year old with eczema, gingival bleeding and recurrent AOMs, pneumonias - what inheritance? - susceptibility to which infection?

Wiskott Aldrich eczema, thrombocytopenia, recurrent infections particularly with encapsulated organisms x-linked

What are lethal complications of excessive iron stores? | other effects of excessive iron stores?

- congestive heart failure and lethal arrhythmias | - endocrine dysfunction (hypoT4, hypogonadotropic gonadism, GH deficiency, hypoPTH, DM)

What factors are involved in the intrinsic pathway?

12, 11, 9, 8 contact factors PTT

What factors are in the extrinsic pathway?

7 tissue factors PT

What factors are in the common pathway?

10, 5, 2, 1 phospholipids 2=prothrombin 1=fibrinogen

VWD test abnormality?

Maybe none! Otherwise aPTT prolonged

Vitamin K dependent factors?

2, 7, 9, 10

Which organ systems are most commonly involved in Langerhans cell histiocytosis?

``` BONE (skull, femur, rib, vertebrae) SKIN (brown to purplish papules, resembles candida) liver* spleen* oral mucosa lung bone marrow* CNS *indicates worse prognosis ```

Baby with petechiae and bruising, CBC shows severe isolated thrombocytopenia. Remainder of investigations normal including mum's CBC. Treatment? If that fails?

- rescue therapy with PLA-1 negative platelets, IVIG if persistent Neonatal alloimmune thrombocytopenic purpura (NATP) - can be verified by identifying maternal Ab to paternal platelet antigens - IVIG +/- steroids to mum in the second trimester if anticipated - plan c/section

Neonatal ITP treatment?

IVIG +/- steroids | Mum's and baby's platelets being attacked, often secondary to SLE or ITP

What is the Mentzer index?

MCV/RBC if <13 thalassemia more likely yes! because thalassemias have high RBC, lots of cells, just smaller and less Hgb

Neuroblastoma sites of metastasis?

lymph nodes, long bones, skull, bone marrow, liver, skin RARE to lungs and brain

Neuroblastoma presenting symptoms?

local disease with mass & metastases Horner syndrome Paraneoplastic syndrome: opsoclonus-myoclonus Catecholamine production: sweating, hypertension Vasoactive peptide production: secretory diarrhea

Tumour lysis syndrome findings and treatment?

high uric acid, phosphates and potassium low calcium Allopurinol to prevent If TLS established, rasburicase

Favourable prognosis factors in neuroblastoma | 4

stage 1, 2A/2B, 4S age <1 year No Myc-N amplification hyperdiploid and favourable histology

chemo man! | C-ears

carboplatin & cysplatin: | nephrotoxic & acoustic nerve damage

chemo man! | V-arms and legs

vincristine: | peripheral neuropathy

chemo man! | B-lungs

bleomycin: | pulmonary fibrosis

chemo man! | D-heart

doxorubin: | dilated cardiomyopathy

chemo man! | C-kidneys

cisplatin & carboplatin: | nephrotoxic and acoustic nerve damage

chemo man! | CY-bladder&urethra

cyclophosphamide: | hemorrhagic cystitis

chemo man! | 56 & M for femur

5FU, 6-MP, Methotrexate: | myelosuppression

What is the formula to calculate an exchange transfusion in a polycythemic newborn?

Volume of exchange (mL) = Blood volume (80mL x wt kg) X (observed - desired Hct)/observed Hct

Long-term cyclophosphamide side effect?

cyclophosphamide - infertility

Long-term Hodgkin lymphoma treatment side-effects?

``` growth retardation thyroid dysfunction (radiation) cardiac toxicity (doxo) secondary malignancy scoliosis impaired growth restrictive lung disease ```

What is associated with del 11p13 (WT1 and PAX6)

WAGR syndrome | Wilms tumour, aniridia, genitourinary anomalies and mental retardation

What is associated with a WT1 missense mutation?

Denys-Drash syndrome | early onset renal failure with mesangial cell sclerosis, male pseudohermaphrodism

Hematology q-bank Flashcards

(65 cards)