Nokea
Koilonychias is a specific feature of
- A. Hemolytic anemia
- B. Sickle cell disease
- C. Thalassemia major
- D. Iron deficiency anemia
Correct Answer: D
Rationale: Step-by-step rationale for why D is correct:
1. Koilonychias is characterized by spoon-shaped nails, a common symptom of iron deficiency anemia due to decreased hemoglobin levels.
2. Iron is essential for normal nail growth, and its deficiency can lead to changes in nail shape.
3. Hemolytic anemia (A) is characterized by the premature destruction of red blood cells, not typically associated with koilonychias.
4. Sickle cell disease (B) causes abnormal hemoglobin, leading to sickle-shaped red blood cells, not related to koilonychias.
5. Thalassemia major (C) is a genetic disorder affecting hemoglobin production, but it does not directly cause koilonychias.
You may also like to solve these questions
You have a new patient consult in clinic this morning. The referral packet includes the newborn screen report, which is flagged abnormal hemoglobinopathy screen, F, A, Bart's, refer to hematology, and a complete blood count done at 4 years of age with a hemoglobin of 10 g/dL and an MCV of 68. The pediatrician has informed the parents the child has some form of alpha thalassemia. The older brother had the same newborn screen results but had a normal complete blood count when checked. The mother wants to know why her second child has an abnormal complete blood count when she and her husband do not have any blood problems. How would you respond to the child's mother?
- A. The mother and father are both silent carriers and each passed a deleted alpha globin allele to their child. The child inherited a trans-deletion genotype alpha thalassemia trait.
- B. The mother has cis deletion alpha thalassemia and the father has no alpha globin deletion, giving the child alpha thalassemia trait.
- C. Neither parent has an alpha globin deletion; this was a new spontaneous mutation causing alpha thalassemia in the child.
- D. Both parents carry cis deletions in the alpha globin gene cluster.
Correct Answer: A
Rationale: Rationale for correct answer A:
1. Both parents must be carriers for the child to have alpha thalassemia.
2. The child has an abnormal complete blood count, indicating a hemoglobinopathy.
3. The child inherited a trans-deletion genotype alpha thalassemia trait from both parents.
4. Silent carriers have no symptoms but can pass on the trait.
Summary for incorrect choices:
B: In cis deletion, both parents would have to pass on the trait, which is not the case here.
C: Spontaneous mutation is unlikely for alpha thalassemia.
D: Both parents having cis deletions would result in a more severe form of alpha thalassemia.
A peripheral blood smear showing increase in numbers of neutrophils, band cells, basophils, eosinophils, and platelets is most suggestive
- A. Acute myeloid leukemia
- B. Acute lymphoid leukemia
- C. Chronic myelocytic leukemia
- D. Chronic lymphocytic leukemia
Correct Answer: C
Rationale: Step-by-step rationale:
1. Increased neutrophils, band cells, basophils, and platelets suggest myeloproliferative disorder.
2. Presence of eosinophils indicates a chronic phase as seen in chronic myelocytic leukemia.
3. Chronic myelocytic leukemia commonly presents with increased granulocytes and platelets.
Summary:
- A: Acute myeloid leukemia is characterized by blast cells, not mature granulocytes.
- B: Acute lymphoid leukemia primarily affects lymphocytes, not myeloid cells.
- D: Chronic lymphocytic leukemia involves lymphocytes, not myeloid cells like in the given case.
A young child with consanguineous parents has developmental delay and a history of multiple recurrent bacterial infections and short stature. He presents to the emergency department following trauma and requires a blood transfusion. Blood work identifies leukocytosis, neutrophilia, and the Bombay blood group (absent H antigen as well as absent A and B antigens). What is this patient's diagnosis?
- A. Chediak-Higashi syndrome
- B. Leukocyte adhesion deficiency (LAD) Type II
- C. CD18 deficiency
- D. Griscelli syndrome
Correct Answer: B
Rationale: The correct answer is B: Leukocyte adhesion deficiency (LAD) Type II. This diagnosis is supported by the patient's history of recurrent bacterial infections, leukocytosis, neutrophilia, and the Bombay blood group. LAD Type II is characterized by a defect in the CD18 integrin molecules, leading to impaired leukocyte adhesion and migration to sites of infection. The Bombay blood group is due to the absence of H antigen, which is also seen in LAD Type II.
A: Chediak-Higashi syndrome is characterized by recurrent infections, albinism, and peripheral neuropathy, not leukocyte adhesion deficiency.
C: CD18 deficiency is actually another term for LAD Type I, not LAD Type II.
D: Griscelli syndrome presents with silvery hair and immunodeficiency, but does not involve leukocyte adhesion deficiency.
You have a new patient consult in clinic this morning. The referral packet includes the newborn screen report, which is flagged abnormal hemoglobinopathy screen, F, A, Bart's, refer to hematology, and a complete blood count done at 4 years of age with a hemoglobin of 10 g/dL and an MCV of 68. The pediatrician has informed the parents the child has some form of alpha thalassemia. The older brother had the same newborn screen results but had a normal complete blood count when checked. The mother wants to know why her second child has an abnormal complete blood count when she and her husband do not have any blood problems. How would you respond to the child's mother?
- A. The mother and father are both silent carriers and each passed a deleted alpha globin allele to their child. The child inherited a trans-deletion genotype alpha thalassemia trait.
- B. The mother has cis deletion alpha thalassemia and the father has no alpha globin deletion, giving the child alpha thalassemia trait.
- C. Neither parent has an alpha globin deletion; this was a new spontaneous mutation causing alpha thalassemia in the child.
- D. Both parents carry cis deletions in the alpha globin gene cluster.
Correct Answer: A
Rationale: The correct answer is A because both parents are silent carriers, each passing a deleted alpha globin allele to their child, resulting in a trans-deletion genotype alpha thalassemia trait. This explanation aligns with the child's abnormal complete blood count and the family history.
Choice B is incorrect because it states that the mother has cis deletion alpha thalassemia, which is not supported by the information provided.
Choice C is incorrect as it suggests a new spontaneous mutation causing alpha thalassemia in the child, which is not consistent with the genetic inheritance pattern described.
Choice D is incorrect because it claims both parents carry cis deletions in the alpha globin gene cluster, which contradicts the scenario where the parents are silent carriers.
You are seeing a 13-year-old boy with fatigue, weight loss, night sweats, and splenomegaly. Peripheral blood shows anemia, thrombocytosis, and leukocytosis (300,000/mm3). What is this patient's most likely diagnosis?
- A. Leukemoid reaction
- B. Acute lymphoblastic leukemia (ALL)
- C. Chronic myeloid leukemia (CML)
- D. Juvenile myelomonocytic leukemia (JMML)
Correct Answer: C
Rationale: The correct answer is C: Chronic myeloid leukemia (CML). This is a likely diagnosis due to the presence of fatigue, weight loss, night sweats, splenomegaly, anemia, thrombocytosis, and leukocytosis with an elevated white blood cell count. CML is characterized by the Philadelphia chromosome, resulting in the BCR-ABL fusion gene. This gene leads to uncontrolled proliferation of myeloid cells, causing the symptoms seen in this patient. Leukemoid reaction (A) is a reactive increase in white blood cells, usually in response to an infection. Acute lymphoblastic leukemia (B) typically presents with symptoms in children but is more commonly associated with lymphoblasts in the peripheral blood. JMML (D) is a rare myelodysplastic disorder in children characterized by monocytosis and a specific genetic mutation.