PAT-4. Hemoglobin S/Montgomery trait masquerading as sickle cell trait.We report a case of a 5-month-old infant referred for hemoglobin electrophoresis to follow-up an abnormal newborn screen. His CBC (1) (Cell Broadcast Center) See cell broadcast. (2) (Cipher Block Chaining) In cryptography, a mode of operation that combines the ciphertext of one block with the plaintext of the next block. was as follows: red cell count red cell count Erythrocyte count Hematology The number of RBCs per volume of blood, measured in microliters–µL or cubic millimeters–mm3; at birth, the RCC is ↑, which is followed shortly by a ↓ that 'bottoms out' at ± 2 months of 5.08 M/[micro]L, hemoglobin 12.3 g/dL, hematocrit 36.3%, MCV MCV mean corpuscular volume. MCV abbr. mean corpuscular volume Mean corpuscular volume (MCV) A measure of the average volume of a red blood cell. 72 fL. The patient was asymptomatic. Hemoglobin electrophoresis revealed a pattern suggestive of sickle cell trait sickle cell trait n. A hereditary condition, usually harmless and without symptoms, in which an individual carries only one gene for sickle cell anemia. but with an abnormal distribution. Alkaline and acid gel electrophoresis using the Beckman Paragon system was performed according to the manufacturer's procedure. Isoelectric focusing (IEF) and high performance liquid chromatography High-performance liquid chromatography (HPLC) is a form of column chromatography used frequently in biochemistry and analytical chemistry. It is also sometimes referred to as high-pressure liquid chromatography. (HPLC HPLC high-performance liquid chromatography. HPLC high performance liquid chromatography. HPLC High-performance liquid chromatography Lab instrumentation A highly sensitive analytic method in which analytes are placed ) using the Bio-Rad Variant beta-Thal Short Program were performed by the North Carolina State Laboratory. The patterns obtained were compared to that of the mother who had been previously worked-up by Mayo Medical Laboratories. Alkaline gel electrophoresis revealed three bands migrating as hemoglobins A1 (40.8%), S (49.6%) and A2 (9.6%). Acid gel electrophoresis revealed bands migrating as hemoglobins A and S with a faint band migrating between hemoglobins S and C. HPLC revealed the following: A1 peak (45.5%) with a retention time of 2.5 minutes, A2 peak (2.9%) with a retention time of 3.6 minutes, S-window (34.6%) with a retention time of 4.5 minutes and C-window (5.1%) with a retention time of 5.0 minutes. IEF revealed a tiny hemoglobin variant between F and S and an abnormal S peak. We describe a case of co-inheritance of hemoglobin S and Montgomery traits identical to the mother's pattern. Hemoglobin Montgomery is an alpha chain variant that co-migrates on alkaline gel electrophoresis and HPLC with hemoglobin S and with hemoglobin A1 on acid gel electrophoresis. Hemoglobin S-Montgomery hybrid forms a minute band that migrates with hemoglobin A2 on alkaline gel electrophoresis and between hemoglobin S and hemoglobin C on acid gel electrophoresis. On HPLC, it migrates in the C-window. Hemoglobin Montgomery/hemoglobin S trait is clinically silent. Chukwuma O. Onyeagocha, MD, Yvonne F. Posey, MD, and Paul G. Catrou, MD. Brody School of Medicine, East Carolina University East Carolina University is a public, coeducational, intensive research university located in Greenville, North Carolina, United States. Named East Carolina University by statue and commonly known as ECU or East Carolina , Greenville, NC. |
|
||||||||||||||||||
Printer friendly
Cite/link
Email
Feedback
Reader Opinion