10 May 2024
: Case report 
Uncommon Combination of Hemoglobin Jax and Hemoglobin Constant Spring Leading to Microcytic Anemia
Challenging differential diagnosis, Rare disease, Congenital defects / diseases
Sirichai Srichairatanakool1ABCDEF, Chatree Chai-Adisaksopha
1AB, Adisak Tantiworawit12AB, Arunee Phusua2CD, Pimlak Charoenkwan 23ABCDEF*
DOI: 10.12659/AJCR.943560
Am J Case Rep 2024; 25:e943560
Table 1. Hematologic characteristics and genotype of the reported patient.
| Characteristics | Results |
|---|---|
| RBC (×10 cells/μL) | 3.63 |
| Hb (g/dL) | 8.4 |
| MCV (fL) | 78.8 |
| MCH (pg) | 23.1 |
| MCHC (g/dL) | 29.4 |
| RDW (%) | 16.6 |
| RBC (×10 cells/μL) | 212 |
| Hemoglobin analysis | AA, abnormal Hb at retention time 4.58 min Hb F 0.8, Hb A 1.7, abnormal Hb 4.8% |
| Alpha-globin gene mutations | : c.44G>C and : c.427T>C |
| Genotype | αα/αα |
| CS – Constant Spring; Hb – hemoglobin; MCH – mean corpuscular hemoglobin; MCHC – mean corpuscular hemoglobin concentration; MCV – mean corpuscular volume; N/A – not available; RBC – red blood cell; RDW – red cell distribution width. | |